ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3980dup (p.Asn1327fs)

dbSNP: rs587782326
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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 RCV000131234 SCV000186189 pathogenic Hereditary cancer-predisposing syndrome 2013-03-12 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Labcorp Genetics (formerly Invitae), Labcorp RCV000804633 SCV000944550 pathogenic Hereditary nonpolyposis colorectal neoplasms 2025-02-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn1327Lysfs*14) in the MSH6 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 34 amino acid(s) of the MSH6 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with MSH6-related conditions (PMID: 24763289). ClinVar contains an entry for this variant (Variation ID: 142234). This variant disrupts a region of the MSH6 protein in which other variant(s) (p.Leu1330Valfs*12) have been determined to be pathogenic (PMID: 14520694, 15236168, 16237223, 19851887, 21155762, 26440929). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV003453080 SCV004185607 pathogenic Lynch syndrome 5 2023-08-28 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Baylor Genetics RCV003467170 SCV004197751 pathogenic Endometrial carcinoma 2023-09-06 criteria provided, single submitter clinical testing

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