ClinVar Miner

Submissions for variant NM_000146.4(FTL):c.370_373del (p.Pro124fs)

dbSNP: rs1555797129
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522692 SCV000619006 likely pathogenic not provided 2017-07-18 criteria provided, single submitter clinical testing The c.370_373delCCCC variant in the FTL gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.370_373delCCCC variant causes a frameshift starting with codon Proline 124, changes this amino acid to an Isoleucine residue, and creates a premature Stop codon at position 11 of the new reading frame, denoted p.Pro124IlefsX11. This variant is predicted to cause loss of normal protein function through protein truncation. The c.370_373delCCCC variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.370_373delCCCC as a likely pathogenic variant.

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