ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.866G>A (p.Gly289Asp)

gnomAD frequency: 0.00016  dbSNP: rs368318845
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000771277 SCV000903426 likely benign Hereditary cancer-predisposing syndrome 2015-05-18 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000771277 SCV002536359 likely benign Hereditary cancer-predisposing syndrome 2020-11-28 criteria provided, single submitter curation
Ambry Genetics RCV000771277 SCV002682557 uncertain significance Hereditary cancer-predisposing syndrome 2020-09-21 criteria provided, single submitter clinical testing The p.G289D variant (also known as c.866G>A), located in coding exon 4 of the MSH6 gene, results from a G to A substitution at nucleotide position 866. The glycine at codon 289 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is well conserved through mammals but not in all 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003594029 SCV004254337 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-05-05 criteria provided, single submitter clinical testing
GeneDx RCV001358402 SCV005201220 uncertain significance not provided 2024-03-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 23621914, 22290698, 28767289, 21437237, 27997549, 16010685, 26898890, 32659497, 26689913, 26580448, 29684080, 18269114)
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001358402 SCV001554122 uncertain significance not provided no assertion criteria provided clinical testing

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