ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.1771C>T (p.Pro591Ser)

dbSNP: rs1429666367
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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 RCV000641965 SCV000763617 benign Tuberous sclerosis 1 2023-12-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002397230 SCV002713904 likely benign Hereditary cancer-predisposing syndrome 2021-03-23 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.
GeneDx RCV003126889 SCV003803292 uncertain significance not provided 2022-08-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
All of Us Research Program, National Institutes of Health RCV004003952 SCV004824679 uncertain significance Tuberous sclerosis syndrome 2023-12-01 criteria provided, single submitter clinical testing This missense variant replaces proline with serine at codon 591 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 1/251066 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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