ClinVar Miner

Submissions for variant NM_000390.4(CHM):c.1680del (p.Ser561fs)

dbSNP: rs1556207100
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658379 SCV000780151 likely pathogenic not provided 2018-05-22 criteria provided, single submitter clinical testing The c.1680delC variant in the CHM gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant causes a frameshift starting with codon Serine 561, changes this amino acid to an Alanine residue, and creates a premature Stop codon at position 22 of the new reading frame, denoted p.Ser561AlafsX22. This variant is predicted to cause loss of normal protein function through protein truncation, as the last 93 amino acids of the protein are replaced with 21 incorrect amino acids. The c.1680delC variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.1680delC as a likely pathogenic variant.
Mendelics RCV002249385 SCV002518705 pathogenic Choroideremia 2022-05-04 criteria provided, single submitter clinical testing

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