ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.125T>A (p.Val42Glu)

dbSNP: rs1846926218
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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 RCV001043370 SCV001207107 likely pathogenic Tuberous sclerosis 1 2019-01-29 criteria provided, single submitter clinical testing This sequence change replaces valine with glutamic acid at codon 42 of the TSC1 protein (p.Val42Glu). The valine residue is highly conserved and there is a moderate physicochemical difference between valine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual with clinical features of tuberous sclerosis complex (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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