ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.3112A>G (p.Ser1038Gly)

gnomAD frequency: 0.00003  dbSNP: rs768443391
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000565729 SCV000675405 likely benign Hereditary cancer-predisposing syndrome 2017-04-26 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 RCV000642001 SCV000763654 benign Tuberous sclerosis 1 2023-12-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000642001 SCV002040343 benign Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004001135 SCV004831418 uncertain significance Tuberous sclerosis syndrome 2023-09-17 criteria provided, single submitter clinical testing This missense variant replaces serine with glycine at codon 1038 of the TSC1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with TSC1-related disorders in the literature. This variant has been identified in 5/249780 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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