ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.2059G>A (p.Val687Met) (rs374691153)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital RCV000761130 SCV000891046 uncertain significance Acute myeloid leukemia 2016-12-07 criteria provided, single submitter clinical testing
Invitae RCV000805523 SCV000945481 likely benign Gorlin syndrome 2020-10-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV001014267 SCV001174958 uncertain significance Hereditary cancer-predisposing syndrome 2019-08-28 criteria provided, single submitter clinical testing The p.V687M variant (also known as c.2059G>A), located in coding exon 14 of the PTCH1 gene, results from a G to A substitution at nucleotide position 2059. The valine at codon 687 is replaced by methionine, an amino acid with highly similar properties. This variant was identified in a cohort of 1040 individuals with advanced cancer who underwent germline analysis of 76 cancer predisposition genes; it was classified as a variant of unknown significance by the authors (Mandelker D et al. JAMA, 2017 09;318:825-835). This amino acid position is highly 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.
Illumina Clinical Services Laboratory,Illumina RCV000805523 SCV001331223 uncertain significance Gorlin syndrome 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001168619 SCV001331224 uncertain significance Holoprosencephaly 7 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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