ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6601_6602del (p.Arg2201fs)

dbSNP: rs61751409
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000085833 SCV000617269 pathogenic not provided 2017-07-10 criteria provided, single submitter clinical testing The c.6601_6602delAG variant in the ABCA4 gene has been reported previously, with no second variant identified, in a female patient with onset of atypical cone-rod dystrophy at age 8 (Maugeri et al., 2000; Klevering et al., 2002). This variant causes a frameshift starting with codon Arginine 2201, changes this amino acid to an Alanine residue, and creates a premature Stop codon at position 49 of the new reading frame, denoted p.Arg2201AlafsX49. The c.6601_6602delAG variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.6601_6602delAG as a pathogenic variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000085833 SCV001578715 pathogenic not provided 2022-10-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 99472). This variant is also known as Glu2200del2 aggGA. This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 20647261). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg2201Alafs*49) in the ABCA4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCA4 are known to be pathogenic (PMID: 10958761, 24938718, 25312043, 26780318).
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815135 SCV005072759 pathogenic Retinal dystrophy 2021-01-01 criteria provided, single submitter clinical testing
Retina International RCV000085833 SCV000117976 not provided not provided no assertion provided not provided

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