ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.2440A>C (p.Asn814His)

gnomAD frequency: 0.00001  dbSNP: rs754623561
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000168036 SCV000218688 benign Gorlin syndrome 2024-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764845 SCV000896001 uncertain significance Basal cell carcinoma, susceptibility to, 1; Gorlin syndrome; Holoprosencephaly 7 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001015555 SCV001176401 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-30 criteria provided, single submitter clinical testing The p.N814H variant (also known as c.2440A>C), located in coding exon 15 of the PTCH1 gene, results from an A to C substitution at nucleotide position 2440. The asparagine at codon 814 is replaced by histidine, an amino acid with 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.
Baylor Genetics RCV003462255 SCV004206626 uncertain significance Basal cell carcinoma, susceptibility to, 1 2023-06-04 criteria provided, single submitter clinical testing

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