ClinVar Miner

Submissions for variant NM_001606.5(ABCA2):c.1047G>C (p.Gln349His)

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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 RCV004623675 SCV005115552 uncertain significance not specified 2024-06-07 criteria provided, single submitter clinical testing The c.1137G>C (p.Q379H) alteration is located in exon 9 (coding exon 9) of the ABCA2 gene. This alteration results from a G to C substitution at nucleotide position 1137, causing the glutamine (Q) at amino acid position 379 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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