ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.366_371del (p.His123_Val124del) (rs1554702032)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519607 SCV000618074 likely pathogenic not provided 2018-07-24 criteria provided, single submitter clinical testing The c.564_569delCCATGT variant in the PTCH1 gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.564_569delCCATGT variant is an in-frame deletion that results in the loss of two amino acid residues, denoted p.H189_V190del. the residues removed by this deletion are conserved across species. Based on currently available evidence, c.564_569delCCATGT is a strong candidate for a pathogenic variant. However, the possibility it could be a rare benign variant cannot be excluded.

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