ClinVar Miner

Submissions for variant NM_004859.4(CLTC):c.3514_3515del (p.Glu1172fs)

dbSNP: rs1598241437
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001009018 SCV001168828 likely pathogenic not provided 2018-10-10 criteria provided, single submitter clinical testing The c.3526_3527delGA variant in the CLTC gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.3526_3527delGA variant causes a frameshift starting with codon Glutamic acid 1176, changes this amino acid to a Threonine residue, and creates a premature Stop codon at position 7 of the new reading frame, denoted p.Glu1176ThrfsX7. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.3526_3527delGA variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.3526_3527delGA as a likely pathogenic variant.

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