ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.983A>T (p.His328Leu)

dbSNP: rs1484111496
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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 RCV001227825 SCV001400201 likely benign Gorlin syndrome 2024-02-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV003294091 SCV003994244 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-31 criteria provided, single submitter clinical testing The p.H328L variant (also known as c.983A>T), located in coding exon 7 of the PTCH1 gene, results from an A to T substitution at nucleotide position 983. The histidine at codon 328 is replaced by leucine, an amino acid with 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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