ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.2933_2934del (p.Thr978fs)

dbSNP: rs778865730
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522461 SCV000621748 uncertain significance not provided 2017-10-19 criteria provided, single submitter clinical testing The c.2933_2934delCA variant is not observed in large population cohorts (Lek et al., 2016). The c.2933_2934delCA variant causes a frameshift starting with codon Threonine 978, changes this amino acid to an Arginine residue and creates a premature Stop codon at position 5 of the new reading frame, denoted p.Thr978ArgfsX5. This variant is predicted to cause loss of normal protein function through protein truncation as the last 11 amino acids of the CLCN1 protein are replaced by 4 incorrect amino acids. However, frameshift variants downstream of the c.2933_2934delCA have not been reported in the Human Gene Mutation Database in association with CLCN1-related disorders (Stenson et al., 2014).

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