ClinVar Miner

Submissions for variant NM_001377458.1(CLCC1):c.145T>A (p.Ser49Thr)

gnomAD frequency: 0.00004  dbSNP: rs201203368
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001998014 SCV002251179 uncertain significance not provided 2022-11-08 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. This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 49 of the CLCC1 protein (p.Ser49Thr). This variant is present in population databases (rs201203368, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with CLCC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1464678).
Breakthrough Genomics, Breakthrough Genomics RCV001998014 SCV005186806 uncertain significance not provided criteria provided, single submitter not provided

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