Variants
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rs786205791

  • Pathogenic/Likely pathogenic

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Description

Although the c.606+1 G>C variant has not been reported as a pathogenic or benign to our knowledge, it has been identified in the homozygous state in one affected individual referred for CPVT genetic testing at GeneDx. This variant destroys the canonical splice donor site in intron 5 and is predicted to cause abnormal gene splicing. Additionally, other splice site variants in the CASQ2 gene have been reported in the Human Gene Mutation Database in association with CPVT (Stenson et al., 2014). Furthermore, the c.606+1 G>C variant is not observed in large population cohorts (Lek et al., 2016).

Reference Allele

C


Alternative Allele

A

G

Chromosome

1


Location

115732900


Variant Type

SNP

Genes

ClinVar

Name

NM_001232.4(CASQ2):c.606+1G>C


Allele

G


Clinical Significance

Pathogenic/Likely pathogenic

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