ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.196+1G>A (rs1131690995)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492083 SCV000581065 pathogenic Hereditary cancer-predisposing syndrome 2016-07-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity,Confirmed de novo alteration in the setting of a new disease (appropriate phenotype) in the family
GeneDx RCV000578764 SCV000680602 pathogenic not provided 2017-04-12 criteria provided, single submitter clinical testing This variant is denoted PTCH1 c.394+1G>A or IVS2+1G>A and consists of a G>A nucleotide substitution at the +1 position of intron 2 of the PTCH1 gene. This variant destroys a canonical splice donor site and 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. This variant has not, to our knowledge, been published in the literature. Based on the current evidence, we consider this variant to be pathogenic.

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