ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.3481A>G (p.Ile1161Val)

dbSNP: rs202102540
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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 RCV002001828 SCV002214889 benign Gorlin syndrome 2024-09-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002458844 SCV002617602 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-15 criteria provided, single submitter clinical testing The p.I1161V variant (also known as c.3481A>G), located in coding exon 21 of the PTCH1 gene, results from an A to G substitution at nucleotide position 3481. The isoleucine at codon 1161 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. 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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