ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.656G>C (p.Arg219Thr) (rs61748537)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000085831 SCV000608486 uncertain significance not provided 2017-06-30 criteria provided, single submitter clinical testing
GeneDx RCV000085831 SCV000321331 likely pathogenic not provided 2016-02-15 criteria provided, single submitter clinical testing The R219T likely pathogenic variant has been reported in association with Stargardt disease (Rosenberg et al., 2007; Kellner et al., 2009; Lambertus et al, 2015), with limited evidence regarding pathogenicity. The R219T variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. R219T 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 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. Missense variants in nearby residues (R220C, G221R) have been reported in the Human Gene Mutation Database in association with Stargardt (Stenson et al., 2014), supporting the functional importance of this region of the protein. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg RCV000408468 SCV000281809 likely pathogenic Stargardt disease 1 2016-01-01 criteria provided, single submitter clinical testing
Retina International RCV000085831 SCV000117974 not provided not provided no assertion provided not provided

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