ClinVar Miner

Submissions for variant NM_001606.5(ABCA2):c.589C>G (p.Pro197Ala)

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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 RCV004625754 SCV005115649 uncertain significance not specified 2024-06-10 criteria provided, single submitter clinical testing The c.679C>G (p.P227A) alteration is located in exon 7 (coding exon 7) of the ABCA2 gene. This alteration results from a C to G substitution at nucleotide position 679, causing the proline (P) at amino acid position 227 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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