ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg) (rs61748536)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000085793 SCV000321328 likely pathogenic not provided 2018-11-20 criteria provided, single submitter clinical testing The S206R variant in the ABCA4 gene has been reported previously in association with autosomal recessive ABCA4-related retinal dystrophies, including Stargardt disease and cone-rod dystrophy (Webster et al., 2001; Birch et al., 2001). However, the S206R variant has also been reported in individuals with retinal dystrophy who had other disease-causing ABCA4 variants or variants in another gene that may have also contributed to the phenotype (Fishman et al., 1999; Eisenberger et al., 2013). The S206R variant is observed in 366/23988 (1.53%) alleles from individuals of African background, including one homozygous individual, in large population cohorts (Lek et al., 2016). The S206R variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In vitro functional studies of the S206R variant demonstrate reduced ATPase activity compared with wild type (Sun et al., 2000). In summary, we interpret S206R as a likely pathogenic variant.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000391995 SCV000340118 benign not specified 2016-04-19 criteria provided, single submitter clinical testing
Invitae RCV000085793 SCV001051202 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000986375 SCV001135365 uncertain significance Stargardt disease 1 2019-05-28 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074695 SCV001240288 uncertain significance Retinal dystrophy 2020-06-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001098370 SCV001254730 uncertain significance ABCA4-Related Disorders 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Retina International RCV000085793 SCV000117936 not provided not provided no assertion provided not provided

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