ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.78G>A (p.Met26Ile)

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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 RCV004505566 SCV005002134 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-19 criteria provided, single submitter clinical testing The c.78G>A (p.M26I) alteration is located in exon 1 (coding exon 1) of the MSH2 gene. This alteration results from a G to A substitution at nucleotide position 78, causing the methionine (M) at amino acid position 26 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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