ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1319A>G (p.Tyr440Cys) (rs770439859)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523526 SCV000617270 uncertain significance not provided 2017-08-07 criteria provided, single submitter clinical testing The Y440C variant in the ABCA4 gene has been previously reported in the heterozygous state in an individual with cone rod dystrophy (Bauwens et al., 2015). While not observed in the homozygous state, the Y440C variant is observed in 20/16512 (0.12%) alleles from individuals of South Asian background in the ExAC dataset (Lek et al., 2016). The Y440C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is not conserved, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret Y440C as a variant of uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV000330893 SCV000359511 uncertain significance Stargardt Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387710 SCV000359512 uncertain significance Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000295678 SCV000359513 uncertain significance Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000343633 SCV000359514 uncertain significance Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing

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