ClinVar Miner

Submissions for variant NM_001128425.1(MUTYH):c.1476_1476+6del (rs864621967)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160747 SCV000211391 likely pathogenic not provided 2018-09-18 criteria provided, single submitter clinical testing This deletion of 7 nucleotides in MUTYH is denoted c.1476_1476+6delGGCACTA at the cDNA level. The normal sequence, with the bases that are deleted in brackets, is GAAAAA[delGgcacta]cctt, where the capital letters are exonic and lowercase are intronic. The deletion spans the intron/exon boundary, removing the canonical splice donor site. It is predicted to cause abnormal gene splicing, leading to either an abnormal message that is subject to nonsense-mediated mRNA decay or to an abnormal protein product. Although this variant has not, to our knowledge, been reported in the literature, it is considered likely pathogenic.
Ambry Genetics RCV000215481 SCV000272960 likely pathogenic Hereditary cancer-predisposing syndrome 2020-01-18 criteria provided, single submitter clinical testing The c.1476_1476+6delGGCACTA variant, located in coding exon and intron 14 of the MUTYH gene, results from a deletion of the last nucleotide of exon 14 and six nucleotides of the adjacent intron, which includes the canonical splice donor site. The canonical splice donor site is highly conserved in available vertebrate species. The BDGP and ESEfinder splice site prediction tools do not produce a reliable prediction for the nearby native splice donor site and direct evidence is insufficient at this time (Ambry internal data). Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as likely pathogenic.
Color Health, Inc RCV000215481 SCV000685585 likely pathogenic Hereditary cancer-predisposing syndrome 2019-06-30 criteria provided, single submitter clinical testing

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