ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.387G>A (p.Trp129Ter)

dbSNP: rs1587692888
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000030726 SCV001225972 pathogenic Gorlin syndrome 2023-09-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 37076). This premature translational stop signal has been observed in individual(s) with PTCH1-related conditions (PMID: 24204797). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp129*) in the PTCH1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PTCH1 are known to be pathogenic (PMID: 16301862, 16419085).
OMIM RCV000030726 SCV000053387 pathogenic Gorlin syndrome 2012-07-01 no assertion criteria provided literature only

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