ClinVar Miner

Submissions for variant NM_173495.3(PTCHD1):c.817G>T (p.Val273Phe)

gnomAD frequency: 0.00001  dbSNP: rs762133513
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002316871 SCV000850659 uncertain significance Inborn genetic diseases 2017-05-10 criteria provided, single submitter clinical testing The p.V273F variant (also known as c.817G>T), located in coding exon 2 of the PTCHD1 gene, results from a G to T substitution at nucleotide position 817. The valine at codon 273 is replaced by phenylalanine, 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.
Invitae RCV000916130 SCV001061363 benign not provided 2018-04-10 criteria provided, single submitter clinical testing
GeneDx RCV000916130 SCV001753396 benign not provided 2021-02-03 criteria provided, single submitter clinical testing

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