Variants
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rs562220073

  • Conflicting interpretations of pathogenicity
  • Uncertain significance

Your Genotype

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Description

This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

Reference Allele

C


Alternative Allele

G

T

Chromosome

16


Location

2088493


Variant Type

SNP

Genes

ClinVar

Name

NM_000548.5(TSC2):c.5307C>T (p.His1769=)


Allele

T


Clinical Significance

Conflicting interpretations of pathogenicity

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