ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys) (rs61748549)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255225 SCV000321335 uncertain significance not specified 2016-07-04 criteria provided, single submitter clinical testing The N380K variant has been reported previously in the heterozygous state in individuals with Stargardt disease and autosomal recessive retinitis pigmentosa (Webster et al., 2001; Valverde et al., 2006; Valverde et al., 2007). For all reported individuals, no second ABCA4 variant was identified, and in one case the variant was identified in cis with another ABCA4 variant (Valverde et al., 2006). In addition, the N380K variant was observed in the heterozygous state in an individual with a history of autosomal recessive retinitis pigmentosa attributed to heterozygosity for two loss-of-function variants in the CEP290 gene (Eisenberger et al., 2013). Although not present in the homozygous state, the NHLBI ESP Exome Sequencing Project reports N380K was observed in 9/8600 alleles (0.11%) from individuals of European American background. The N380K variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret N380K as a variant of uncertain significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000085376 SCV000702698 uncertain significance not provided 2016-11-17 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764205 SCV000895208 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
Retina International RCV000085376 SCV000117513 not provided not provided no assertion provided not provided

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