ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2320A>T (p.Ile774Phe)

gnomAD frequency: 0.00001  dbSNP: rs775464903
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001015182 SCV001175991 uncertain significance Hereditary cancer-predisposing syndrome 2019-07-02 criteria provided, single submitter clinical testing The p.I774F variant (also known as c.2320A>T), located in coding exon 14 of the MSH2 gene, results from an A to T substitution at nucleotide position 2320. The isoleucine at codon 774 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001860785 SCV002193596 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-06-26 criteria provided, single submitter clinical testing
Baylor Genetics RCV003461347 SCV004196244 uncertain significance Lynch syndrome 1 2023-09-17 criteria provided, single submitter clinical testing

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