ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.2460C>T (p.Tyr820=)

gnomAD frequency: 0.00001  dbSNP: rs766227557
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000338756 SCV000481298 uncertain significance Gorlin syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000392544 SCV000481299 uncertain significance Holoprosencephaly sequence 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000338756 SCV000749379 likely benign Gorlin syndrome 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV001015611 SCV001176461 likely benign Hereditary cancer-predisposing syndrome 2017-10-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003957878 SCV004776770 likely benign PTCH1-related condition 2019-09-05 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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