ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2608G>T (p.Ala870Ser)

dbSNP: rs1553370462
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000567908 SCV000669853 uncertain significance Hereditary cancer-predisposing syndrome 2017-03-29 criteria provided, single submitter clinical testing The p.A870S variant (also known as c.2608G>T), located in coding exon 15 of the MSH2 gene, results from a G to T substitution at nucleotide position 2608. The alanine at codon 870 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved through opossum. In addition, the in silico prediction for this alteration is inconclusive. 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.

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