ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.709G>C (p.Asp237His) (rs1172719429)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000762565 SCV000892897 uncertain significance not provided 2018-09-30 criteria provided, single submitter clinical testing
Invitae RCV000542244 SCV000623063 uncertain significance Gorlin syndrome 2017-06-13 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with histidine at codon 303 of the PTCH1 protein (p.Asp303His). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and histidine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a PTCH1-related disease. 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, this variant has uncertain impact on PTCH1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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