ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4332C>T (p.Pro1444=)

gnomAD frequency: 0.00004  dbSNP: rs373973956
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720057 SCV000518473 likely benign not provided 2019-09-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000460174 SCV000556591 likely benign Tuberous sclerosis 2 2024-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV001022309 SCV001184028 likely benign Hereditary cancer-predisposing syndrome 2019-03-21 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.
Genome-Nilou Lab RCV000460174 SCV002039453 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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