ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.247G>C (p.Ala83Pro)

dbSNP: rs76667066
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001319670 SCV001510427 uncertain significance Tuberous sclerosis 1 2020-07-08 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with TSC1-related conditions. This variant is present in population databases (rs76667066, ExAC 0.001%). This sequence change replaces alanine with proline at codon 83 of the TSC1 protein (p.Ala83Pro). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and proline.
Ambry Genetics RCV003294279 SCV003997230 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-08 criteria provided, single submitter clinical testing The p.A83P variant (also known as c.247G>C), located in coding exon 3 of the TSC1 gene, results from a G to C substitution at nucleotide position 247. The alanine at codon 83 is replaced by proline, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003469542 SCV004204474 uncertain significance Isolated focal cortical dysplasia type II 2023-06-07 criteria provided, single submitter clinical testing

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