ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2279T>C (p.Leu760Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili RCV004699153 SCV005201045 likely pathogenic Retinitis pigmentosa 19 2024-08-15 criteria provided, single submitter clinical testing Hot-spot of length 17 amino-acids has 16 missense/in-frame variants (10 pathogenic variants, 6 uncertain variants and no benign), which qualifies as moderate pathogenic.UniProt protein ABCA4_HUMAN has 305 missense/in-frame variants (217 pathogenic variants, 88 uncertain variants and no benign), which qualifies as moderate pathogenic (PM1). GnomAD genomes homozygous allele count = 1. GnomAD exomes homozygous allele count = 1 (PM2).MetaRNN = 0.954 is greater than 0.939 ⇒ strong pathogenic (PP3).We identified this compound heterozygous variant in a 36-year-old woman diagnosed with retinitis pigmentosa. Her parents are not consanguineous.

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