ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.4-1726C>G (rs779791579)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000567817 SCV000674455 uncertain significance Hereditary cancer-predisposing syndrome 2017-07-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
CeGaT Praxis fuer Humangenetik Tuebingen RCV000512831 SCV000609345 uncertain significance not provided 2017-03-31 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764853 SCV000896009 uncertain significance Basal cell carcinoma, multiple; Gorlin syndrome; Holoprosencephaly 7 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000388546 SCV000481356 uncertain significance Holoprosencephaly sequence 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000168136 SCV000481357 uncertain significance Gorlin syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000168136 SCV000218796 uncertain significance Gorlin syndrome 2018-01-25 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 13 of the PTCH1 protein (p.Arg13Gly). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and glycine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with PTCH1-related disease. ClinVar contains an entry for this variant (Variation ID: 188208). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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