ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.1418_1432del (p.Gly473_Val477del)

dbSNP: rs1554698582
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000553910 SCV000622915 likely pathogenic Gorlin syndrome 2017-09-12 criteria provided, single submitter clinical testing This variant, c.1418_1432delGCGTCCTGCTGGTTG, results in the deletion of 5 amino acids of the PTCH1 protein (p.Gly473_Val477del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). Family studies have indicated that this variant was not present in the parents of an individual affected with Gorlin syndrome, which suggests that it was de novo in that affected individual (Invitae). This in-frame deletion of 5 amino acids (Gly473-Val477) occurs within the third transmembrane domain (amino acids 473-498) of the PTCH1 protein (PMID: 16419085, 17021131, 8658145, 8981943). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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