ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2609C>T (p.Ala870Val)

gnomAD frequency: 0.00001  dbSNP: rs63750709
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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 RCV001016051 SCV001176962 uncertain significance Hereditary cancer-predisposing syndrome 2019-10-01 criteria provided, single submitter clinical testing The p.A870V variant (also known as c.2609C>T), located in coding exon 15 of the MSH2 gene, results from a C to T substitution at nucleotide position 2609. The alanine at codon 870 is replaced by valine, an amino acid with similar properties. This amino acid position is 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.
Invitae RCV001221779 SCV001393841 benign Hereditary nonpolyposis colorectal neoplasms 2022-12-06 criteria provided, single submitter clinical testing

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