ClinVar Miner

Submissions for variant NM_001606.5(ABCA2):c.4973G>A (p.Gly1658Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004907375 SCV005572653 uncertain significance not specified 2024-07-30 criteria provided, single submitter clinical testing The c.5063G>A (p.G1688E) alteration is located in exon 31 (coding exon 31) of the ABCA2 gene. This alteration results from a G to A substitution at nucleotide position 5063, causing the glycine (G) at amino acid position 1688 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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