ClinVar Miner

Submissions for variant NM_004895.4(NLRP3):c.2895_2902delinsTTCCACACTTTC (p.Thr966fs) (rs1553293315)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521176 SCV000621361 uncertain significance not provided 2017-10-03 criteria provided, single submitter clinical testing The c.2895_2902delGACCTCCAins12 variant in the NLRP3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.2895_2902delGACCTCCAins12 variant causes a frameshift starting with codon Threonine 966, changes this amino acid to a Serine residue, and creates a premature Stop codon at position 16 of the new reading frame, denoted p.Thr966SerfsX16. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2895_2902delGACCTCCAins12 variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.2895_2902delGACCTCCAins12 as a variant of uncertain significance.

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