ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4925G>T (p.Ser1642Ile)

gnomAD frequency: 0.00425  dbSNP: rs114518437
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000340669 SCV000359288 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000393458 SCV000359289 likely benign Stargardt Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000301076 SCV000359290 likely benign Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000353628 SCV000359291 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000486564 SCV000564536 uncertain significance not provided 2018-12-20 criteria provided, single submitter clinical testing The S1642I variant in the ABCA4 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The S1642I variant is observed in 348/24,036 (1.4%) alleles from individuals of African background and 372/277,170 (0.13%) total alleles in large population cohorts, including one homozygous individual, which is greater than expected for this disorder (Lek et al., 2016). However, the S1642I 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 S1642I as a variant of uncertain significance.
Invitae RCV000486564 SCV001039157 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075649 SCV001241276 uncertain significance Retinal dystrophy 2019-02-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001101750 SCV001258387 likely benign ABCA4-Related Disorders 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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