Submissions for variant NM_000350.3(ABCA4):c.926C>G (p.Pro309Arg) (rs61748545)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000085874	SCV000321334	likely pathogenic	not provided	2018-10-18	criteria provided, single submitter	clinical testing	The P309R variant in the ABCA4 gene has been reported previously in association with autosomal recessive Stargardt disease when present with another disease-causing variant in the ABCA4 gene (Briggs et al., 2001; Cideciyan et al., 2009; Zernant et al., 2014; Carss et al., 2017). The P309R variant is observed in 39/24,022 (0.1624%) alleles from individuals of African background in large population cohorts and no individuals were reported to be homozygous (Lek et al., 2016). The P309R 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. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret P309R as a likely pathogenic variant.
NIHR Bioresource Rare Diseases, University of Cambridge	RCV000504769	SCV000599027	likely pathogenic	Macular dystrophy	2015-01-01	no assertion criteria provided	research
Retina International	RCV000085874	SCV000118017	not provided	not provided		no assertion provided	not provided