ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.3607G>A (p.Gly1203Arg) (rs1064793011)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479551 SCV000564531 likely pathogenic not provided 2013-12-29 criteria provided, single submitter clinical testing The G1203R missense change in the ABCA4 gene has been reported in association with ABCA4-related disorders (Stenirri et al., 2004). However, no functional data was provided and the patient that is reported also harbored the K223Q and S1071L variants. The G1203R amino acid substitution is non-conservative with a neutral non-polar residue (Gly) being replaced by a positively charged residue (Arg). This residue at which this substitution occurs is highly conserved among species. This missense change affects the last base of the exon and is predicted to impact normal splicing. In silico analysis was inconsistent with regard to the effect this variant may have on the protein structure/function. Other missense variants at this residue (G1203D and G1203E) have been reported in association with ABCA4-related disorders (Kitiratschky et al., 2008; Stenirri et al., 2004). Therefore, based on the information currently available, G1203R is a strong candidate for a pathogenic variant; however, the possibility that it is a benign variant cannot be excluded.

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