ClinVar Miner

Submissions for variant NM_001606.5(ABCA2):c.3686G>A (p.Gly1229Glu)

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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 RCV005338641 SCV006006514 uncertain significance not specified 2025-02-07 criteria provided, single submitter clinical testing The c.3776G>A (p.G1259E) alteration is located in exon 24 (coding exon 24) of the ABCA2 gene. This alteration results from a G to A substitution at nucleotide position 3776, causing the glycine (G) at amino acid position 1259 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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