ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.3717_3718del (p.Cys1240fs)

gnomAD frequency: 0.00002  dbSNP: rs1407602065
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008189 SCV001167955 likely pathogenic not provided 2018-06-08 criteria provided, single submitter clinical testing The c.3717_3718delCT variant in the C2orf71 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.3717_3718delCT variant causes a frameshift starting with codon Cysteine 1240, changes this amino acid to a Phenylalanine residue, and creates a premature Stop codon at position 3 of the new reading frame, denoted p.Cys1240PhefsX3. This variant is predicted to cause loss of normal protein function through protein truncation, as the last 49 amino acids are lost and replaced with 2 incorrect amino acids. The c.3717_3718delCT variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret c.3717_3718delCT as a likely pathogenic variant.

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