ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.4043A>G (p.Asn1348Ser)

gnomAD frequency: 0.00001  dbSNP: rs371943557
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205121 SCV000260890 likely benign Gorlin syndrome 2024-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764837 SCV000895993 uncertain significance Basal cell carcinoma, susceptibility to, 1; Gorlin syndrome; Holoprosencephaly 7 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001021739 SCV001183390 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-02 criteria provided, single submitter clinical testing The p.N1348S variant (also known as c.4043A>G), located in coding exon 23 of the PTCH1 gene, results from an A to G substitution at nucleotide position 4043. The asparagine at codon 1348 is replaced by serine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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