ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1035T>A (p.Asn345Lys)

dbSNP: rs765166082
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000223357 SCV000278518 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-25 criteria provided, single submitter clinical testing The p.N345K variant (also known as c.1035T>A), located in coding exon 4 of the MSH6 gene, results from a T to A substitution at nucleotide position 1035. The asparagine at codon 345 is replaced by lysine, an amino acid with similar properties. This amino acid position is not well conserved in 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.
Color Diagnostics, LLC DBA Color Health RCV000223357 SCV000908366 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-05 criteria provided, single submitter clinical testing This missense variant replaces asparagine with lysine at codon 345 of the MSH6 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MSH6-related disorders in the literature. This variant has been identified in 5/282712 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000798414 SCV000938031 benign Hereditary nonpolyposis colorectal neoplasms 2024-12-18 criteria provided, single submitter clinical testing
Baylor Genetics RCV003463597 SCV004197685 uncertain significance Endometrial carcinoma 2024-01-05 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004806246 SCV005429250 uncertain significance Lynch syndrome 2024-08-30 criteria provided, single submitter clinical testing This missense variant replaces asparagine with lysine at codon 345 of the MSH6 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MSH6-related disorders in the literature. This variant has been identified in 5/282712 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.

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