ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.1177G>A (p.Ala393Thr)

gnomAD frequency: 0.00001  dbSNP: rs199476091
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532256 SCV000622899 benign Gorlin syndrome 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV001010144 SCV001170298 likely benign Hereditary cancer-predisposing syndrome 2018-08-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Illumina Laboratory Services, Illumina RCV000532256 SCV001329324 benign Gorlin syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV000008704 SCV001332159 benign Holoprosencephaly 7 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Sema4, Sema4 RCV001010144 SCV002526796 likely benign Hereditary cancer-predisposing syndrome 2022-03-13 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV004547466 SCV004788821 likely benign PTCH1-related disorder 2020-03-10 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).
OMIM RCV000008704 SCV000028913 pathogenic Holoprosencephaly 7 2002-04-01 no assertion criteria provided literature only

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