ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.2386C>A (p.Arg796=)

dbSNP: rs372431614
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001432966 SCV001635749 likely benign not provided 2022-11-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV004945138 SCV005444623 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-30 criteria provided, single submitter clinical testing The c.2386C>A variant (also known as p.R796R), located in coding exon 17 of the MSH3 gene, results from a C to A substitution at nucleotide position 2386. This nucleotide substitution does not change the arginine at codon 796. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may weaken the native splice donor site. Based on the available evidence, the clinical significance of this variant remains unclear.

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