ClinVar Miner

Submissions for variant NM_001606.5(ABCA2):c.296G>A (p.Arg99His)

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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 RCV004918354 SCV005584617 uncertain significance not specified 2024-09-04 criteria provided, single submitter clinical testing The c.386G>A (p.R129H) alteration is located in exon 5 (coding exon 5) of the ABCA2 gene. This alteration results from a G to A substitution at nucleotide position 386, causing the arginine (R) at amino acid position 129 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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