ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.461A>G (p.Asn154Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005103620 SCV005813963 benign Gorlin syndrome 2024-08-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004727941 SCV005336909 uncertain significance PTCH1-related disorder 2024-05-21 no assertion criteria provided clinical testing The PTCH1 c.461A>G variant is predicted to result in the amino acid substitution p.Asn154Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0033% of alleles in individuals of South Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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