ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.3182C>T (p.Ala1061Val)

dbSNP: rs1409913416
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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 RCV001370413 SCV001566894 benign Gorlin syndrome 2024-05-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004037471 SCV005034216 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-04 criteria provided, single submitter clinical testing The p.A1061V variant (also known as c.3182C>T), located in coding exon 19 of the PTCH1 gene, results from a C to T substitution at nucleotide position 3182. The alanine at codon 1061 is replaced by valine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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