ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3928G>A (p.Glu1310Lys)

gnomAD frequency: 0.00001  dbSNP: rs1194990135
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000569784 SCV000669962 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-31 criteria provided, single submitter clinical testing The p.E1310K variant (also known as c.3928G>A), located in coding exon 9 of the MSH6 gene, results from a G to A substitution at nucleotide position 3928. The glutamic acid at codon 1310 is replaced by lysine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001070287 SCV001235509 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-12-08 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000569784 SCV001354194 uncertain significance Hereditary cancer-predisposing syndrome 2020-02-10 criteria provided, single submitter clinical testing This missense variant replaces glutamic acid with lysine at codon 1310 of the MSH6 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 2/250188 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV003387887 SCV004099358 uncertain significance Lynch syndrome 5 2023-10-30 no assertion criteria provided clinical testing

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