ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.1078A>G (p.Thr360Ala)

gnomAD frequency: 0.00001  dbSNP: rs201738258
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000642012 SCV000763665 likely benign Tuberous sclerosis 1 2024-01-09 criteria provided, single submitter clinical testing
GeneDx RCV001538503 SCV001756165 likely benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000642012 SCV002040469 benign Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002422309 SCV002725677 likely benign Hereditary cancer-predisposing syndrome 2024-01-10 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.

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