ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.3710G>T (p.Arg1237Leu) (rs779365332)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000764840 SCV000895996 uncertain significance Basal cell carcinoma, multiple; Gorlin syndrome; Holoprosencephaly 7 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000628381 SCV000749279 uncertain significance Gorlin syndrome 2017-11-29 criteria provided, single submitter clinical testing This sequence change replaces arginine with leucine at codon 1303 of the PTCH1 protein (p.Arg1303Leu). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and leucine. This variant is present in population databases (rs779365332, ExAC 0.006%). This variant has not been reported in the literature in individuals with PTCH1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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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