ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.1332A>G (p.Ser444=)

gnomAD frequency: 0.00004  dbSNP: rs773003016
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189846 SCV000243499 likely benign not provided 2020-09-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087970 SCV000284673 likely benign Tuberous sclerosis 1 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000574822 SCV000675361 likely benign Hereditary cancer-predisposing syndrome 2020-10-29 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 RCV001087970 SCV002040110 benign Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000574822 SCV002530902 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-14 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV003996856 SCV004833033 uncertain significance Tuberous sclerosis syndrome 2023-10-27 criteria provided, single submitter clinical testing This synonymous variant causes a nucleotide substitution but does not change the encoded amino acid at codon 444 of the TSC1 protein. Splice site prediction tools suggest that this variant may impact RNA splicing. 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 6/282730 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.
PreventionGenetics, part of Exact Sciences RCV003895232 SCV004708286 likely benign TSC1-related disorder 2023-08-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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