ClinVar Miner

Submissions for variant NM_001606.5(ABCA2):c.4543G>A (p.Glu1515Lys)

dbSNP: rs1389978024
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004075739 SCV003541333 uncertain significance not specified 2022-02-24 criteria provided, single submitter clinical testing The c.4633G>A (p.E1545K) alteration is located in exon 29 (coding exon 29) of the ABCA2 gene. This alteration results from a G to A substitution at nucleotide position 4633, causing the glutamic acid (E) at amino acid position 1545 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003404144 SCV004110041 uncertain significance ABCA2-related disorder 2023-01-31 criteria provided, single submitter clinical testing The ABCA2 c.4633G>A variant is predicted to result in the amino acid substitution p.Glu1545Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0071% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-139907920-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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