ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1245G>A (p.Ala415=)

gnomAD frequency: 0.00004  dbSNP: rs757325185
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163893 SCV000214484 likely benign Hereditary cancer-predisposing syndrome 2017-05-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000229260 SCV000285231 benign Tuberous sclerosis 2 2024-11-16 criteria provided, single submitter clinical testing
GeneDx RCV000616256 SCV000727595 likely benign not specified 2018-02-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV000229260 SCV002041311 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505202 SCV002797909 likely benign Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2021-08-27 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003995294 SCV004819243 likely benign Tuberous sclerosis syndrome 2023-12-13 criteria provided, single submitter clinical testing

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