ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.838A>T (p.Met280Leu) (rs138682163)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255612 SCV000321333 uncertain significance not provided 2016-05-19 criteria provided, single submitter clinical testing The M280L variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The NHLBI Exome Sequencing Project reports M280L was observed in 20/4406 (0.45%) alleles from individuals of African American background, and the 1000 Genomes Project Consortium reports M280L was observed in 10/1322 (0.76%) alleles from individuals of African background indicating it may be a rare variant in this population. The M280L variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. In silico analysis predicts this variant likely does not alter the protein structure/function. A missense variant in the same residue (M280T) has been reported in the Human Gene Mutation Database in association with Stargardt disease (Stenson et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Fulgent Genetics,Fulgent Genetics RCV000764206 SCV000895209 uncertain significance Cone-rod dystrophy 3; Age-related macular degeneration 2; Stargardt disease 1; Retinitis pigmentosa 19 2018-10-31 criteria provided, single submitter clinical testing

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