ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.3419C>T (p.Pro1140Leu)

gnomAD frequency: 0.00005  dbSNP: rs751126355
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000460787 SCV000552289 benign Tuberous sclerosis 1 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV001020253 SCV001181708 likely benign Hereditary cancer-predisposing syndrome 2021-07-28 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 RCV001554985 SCV001776330 likely benign not provided 2020-06-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000460787 SCV002039989 likely benign Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004001894 SCV004831296 likely benign Tuberous sclerosis syndrome 2023-12-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003899930 SCV004717722 uncertain significance TSC1-related disorder 2023-11-10 no assertion criteria provided clinical testing The TSC1 c.3419C>T variant is predicted to result in the amino acid substitution p.Pro1140Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.020% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-135771698-G-A). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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