ClinVar Miner

Submissions for variant NM_001606.5(ABCA2):c.1081G>A (p.Ala361Thr)

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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 RCV004915686 SCV005583240 uncertain significance not specified 2024-12-03 criteria provided, single submitter clinical testing The c.1171G>A (p.A391T) alteration is located in exon 9 (coding exon 9) of the ABCA2 gene. This alteration results from a G to A substitution at nucleotide position 1171, causing the alanine (A) at amino acid position 391 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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