ClinVar Miner

Submissions for variant NM_173495.3(PTCHD1):c.1878del (p.Gln627fs)

dbSNP: rs1555912737
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599453 SCV000710759 likely pathogenic not provided 2018-03-08 criteria provided, single submitter clinical testing The c.1878delT variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1878delT variant is not observed in large population cohorts (Lek et al., 2016). The c.1878delT variant causes a frameshift starting with codon Glutamine 627, changes this amino acid to a Lysine residue, and creates a premature Stop codon at position 16 of the new reading frame, denoted p.Gln627LysfsX16. This variant is predicted to cause loss of normal protein function through protein truncation as the last 262 amino acids of the protein are lost and replaced with 15 incorrect amino acids. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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