ClinVar Miner

Submissions for variant NM_001606.5(ABCA2):c.590C>A (p.Pro197His)

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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 RCV004625813 SCV005117806 uncertain significance not specified 2024-06-10 criteria provided, single submitter clinical testing The c.680C>A (p.P227H) alteration is located in exon 7 (coding exon 7) of the ABCA2 gene. This alteration results from a C to A substitution at nucleotide position 680, causing the proline (P) at amino acid position 227 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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