ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.2242A>C (p.Asn748His) (rs754623561)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000168036 SCV000218688 uncertain significance Gorlin syndrome 2014-10-13 criteria provided, single submitter clinical testing This sequence change replaces asparagine with histidine at codon 814 of the PTCH1 protein (p.Asn814His). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and histidine. This sequence change has not been published in the literature and is not present in population databases. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen, Align-GVGD) all suggest that this sequence change is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this is a novel missense change that is not predicted to affect protein function or cause disease. However, the evidence is insufficient at this time to prove that conclusively. It has been classified as a Variant of Uncertain Significance.
Fulgent Genetics,Fulgent Genetics RCV000764845 SCV000896001 uncertain significance Basal cell carcinoma, multiple; Gorlin syndrome; Holoprosencephaly 7 2018-10-31 criteria provided, single submitter clinical testing

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