ClinVar Miner

Submissions for variant NM_001606.5(ABCA2):c.697G>A (p.Ala233Thr)

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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 RCV005341330 SCV006006625 uncertain significance not specified 2025-02-25 criteria provided, single submitter clinical testing The c.787G>A (p.A263T) alteration is located in exon 8 (coding exon 8) of the ABCA2 gene. This alteration results from a G to A substitution at nucleotide position 787, causing the alanine (A) at amino acid position 263 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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