ClinVar Miner

Submissions for variant NM_001606.5(ABCA2):c.835C>A (p.Arg279Ser)

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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 RCV005332720 SCV005993649 uncertain significance not specified 2025-01-02 criteria provided, single submitter clinical testing The c.925C>A (p.R309S) alteration is located in exon 8 (coding exon 8) of the ABCA2 gene. This alteration results from a C to A substitution at nucleotide position 925, causing the arginine (R) at amino acid position 309 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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