ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.1305G>A (p.Gln435=) (rs1085307511)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489836 SCV000576613 likely pathogenic not provided 2017-04-25 criteria provided, single submitter clinical testing The c.1503G>A variant in the PTCH1 gene has been previously reported in at least one individual pursuing genetic testing for Gorlin syndrome (Klein et al., 2005). Several in silico splice prediction models predict that c.1503G>A destroys the natural splice donor site in intron 10, and is expected to cause abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change is unknown. Based on currently available evidence, c.1503G>A is a strong candidate for a pathogenic variant. However, the possibility it is a rare benign variant cannot be excluded.

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