ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.4069A>T (p.Met1357Leu)

dbSNP: rs757909121
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000533630 SCV000623022 benign Gorlin syndrome 2024-05-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002323900 SCV002626436 likely benign Hereditary cancer-predisposing syndrome 2025-01-11 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.
GeneDx RCV004592545 SCV005080539 uncertain significance not provided 2023-06-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005049594 SCV005679679 uncertain significance Basal cell carcinoma, susceptibility to, 1; Holoprosencephaly 7; Basal cell nevus syndrome 1 2024-03-25 criteria provided, single submitter clinical testing

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