ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.461C>T (p.Ala154Val)

dbSNP: rs1558459194
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001022796 SCV001184574 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-26 criteria provided, single submitter clinical testing The p.A154V variant (also known as c.461C>T), located in coding exon 3 of the MSH2 gene, results from a C to T substitution at nucleotide position 461. The alanine at codon 154 is replaced by valine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. In addition, this alteration is predicted to be benign by MAPP-MMR in silico analyses (Chao EC et al. Hum. Mutat. 2008 Jun;29:852-60). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001060535 SCV001225229 benign Hereditary nonpolyposis colorectal neoplasms 2022-09-27 criteria provided, single submitter clinical testing

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