ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.3691C>T (p.Arg1231Trp) (rs372027952)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000119190 SCV000153927 uncertain significance Gorlin syndrome 2018-08-16 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 1297 of the PTCH1 protein (p.Arg1297Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs372027952, ExAC 0.01%) . This variant was reported in an individual with bilateral Axenfeld-Rieger malformation, and was inherited from an asymptomatic father (PMID: 26893459). ClinVar contains an entry for this variant (Variation ID: 132738). Experimental studies using a model organism have shown that this missense change is unable to complement PTCH1 protein function (PMID: 26893459). 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.
Paul Sabatier University EA-4555, Paul Sabatier University RCV000207358 SCV000259148 likely pathogenic Rieger syndrome 2013-01-01 criteria provided, single submitter clinical testing

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