ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4930G>T (p.Asp1644Tyr)

dbSNP: rs137853999
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001350488 SCV001544888 pathogenic Tuberous sclerosis 2 2020-11-18 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt TSC2 protein function. This sequence change replaces aspartic acid with tyrosine at codon 1644 of the TSC2 protein (p.Asp1644Tyr). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with tuberous sclerosis complex (Invitae). In at least one individual the variant was observed to be de novo. For these reasons, this variant has been classified as Pathogenic.

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