ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3954_3971dup (p.Ala1320_Lys1325dup)

dbSNP: rs1670138558
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001177749 SCV001342012 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001202341 SCV001373450 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2020-10-30 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has not been reported in the literature in individuals with MSH6-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.3954_3971dup, results in the insertion of 6 amino acid(s) to the MSH6 protein (p.Ala1320_Lys1325dup), but otherwise preserves the integrity of the reading frame.
Ambry Genetics RCV001177749 SCV002621939 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-05 criteria provided, single submitter clinical testing The c.3954_3971dup18 variant (also known as p.A1320_K1325dup), located in coding exon 9 of the MSH6 gene, results from an in-frame duplication of 18 nucleotides at nucleotide positions 3954 to 3971. This results in the duplication of 6 extra residues (AREFEK) between codons 1320 and 1325. This amino acid region is highly conserved through mammals but not in all available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004006408 SCV004835172 uncertain significance Lynch syndrome 2023-08-15 criteria provided, single submitter clinical testing

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