ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3939_3959dup (p.Gln1314_Ala1320dup)

dbSNP: rs1553333670
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000662525 SCV000785086 uncertain significance Lynch syndrome 5 2017-04-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000690870 SCV000818599 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2022-03-24 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, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 548737). This variant has not been reported in the literature in individuals affected with MSH6-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.3939_3959dup, results in the insertion of 7 amino acid(s) of the MSH6 protein (p.Gln1314_Ala1320dup), but otherwise preserves the integrity of the reading frame.
Ambry Genetics RCV001021473 SCV001183095 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-29 criteria provided, single submitter clinical testing The c.3939_3959dup21 variant (also known as p.Q1314_A1320dup), located in coding exon 9 of the MSH6 gene, results from an in-frame duplication of 21 nucleotides at nucleotide positions 3939 to 3959. This results in the duplication of 7 extra residues (QKGHRKA) between codons 1314 and 1320. This amino acid region is well conserved through mammals but not in all available vertebrate species. Based on the available evidence, the clinical significance of this alteration remains unclear.
Myriad Genetics, Inc. RCV000662525 SCV004018864 uncertain significance Lynch syndrome 5 2023-03-27 criteria provided, single submitter clinical testing This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.

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