ClinVar Miner

Submissions for variant NC_000001.11:g.(?_45332568)_(45334517_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000640421 SCV000762012 pathogenic Familial adenomatous polyposis 2 2019-03-08 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing exon 2-7 and part of exon 8 (c.37-1317_667del) of the MUTYH gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with MUTYH-related disease. ClinVar contains an entry for this variant (Variation ID: 464717). This variant disrupts the p.Tyr179 amino acid residue in MUTYH. Other variant(s) that disrupt this residue have been observed in affected individuals (PMID: 19732775, 21520333, 23035301, 12606733, 16557584, 17489848), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease For these reasons, this variant has been classified as Pathogenic.

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