ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5637del (p.Phe1880fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV002789986 SCV003761279 likely pathogenic Retinitis pigmentosa 19 2023-01-25 criteria provided, single submitter curation The heterozygous p.Phe1880LeufsTer13 variant in ABCA4 was identified by our study, in the compound heterozygous state with a known risk variant (ClinVar Variation ID: 99390), in one individual with retinitis pigmentosa. This individual also carried a known risk variant (ClinVar Variation ID: 99390); however the phase of these variants is unknown at this time. The p.Phe1880LeufsTer13 variant in ABCA4 has been previously reported in one individual with autosomal recessive ABCA4-related retinopathy (PMID: 32893963). This variant was absent from large population studies. This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 1880 and leads to a premature termination codon 13 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Loss of function of the ABCA4 gene is an established disease mechanism in autosomal recessive ABCA4-related retinopathy. In summary, although additional studies are required to fully establish its clinical significance, this variant is likely pathogenic for autosomal recessive ABCA4-related retinopathy. ACMG/AMP Criteria applied: PVS1, PM2_Supporting (Richards 2015).
Pars Genome Lab RCV003229942 SCV003926616 pathogenic Severe early-childhood-onset retinal dystrophy criteria provided, single submitter clinical testing

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