ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.1877G>A (p.Cys626Tyr)

gnomAD frequency: 0.00001  dbSNP: rs780102728
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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 RCV000807459 SCV000947512 uncertain significance not provided 2023-12-06 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 626 of the MSH3 protein (p.Cys626Tyr). This variant is present in population databases (rs780102728, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with MSH3-related conditions. ClinVar contains an entry for this variant (Variation ID: 651992). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Sema4, Sema4 RCV002257973 SCV002536003 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-25 criteria provided, single submitter curation
Ambry Genetics RCV002257973 SCV002722371 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-03 criteria provided, single submitter clinical testing The p.C626Y variant (also known as c.1877G>A), located in coding exon 13 of the MSH3 gene, results from a G to A substitution at nucleotide position 1877. The cysteine at codon 626 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003467422 SCV004196977 uncertain significance Endometrial carcinoma 2024-02-16 criteria provided, single submitter clinical testing

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