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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