ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.1842del (p.Phe614fs)

dbSNP: rs1131690991
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492209 SCV000581054 pathogenic Hereditary cancer-predisposing syndrome 2016-01-18 criteria provided, single submitter clinical testing The c.1842delT pathogenic mutation, located in coding exon 13 of the PTCH1 gene, results from a deletion of one nucleotide at position 1842, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

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