ClinVar Miner

Submissions for variant NM_001606.5(ABCA2):c.1218C>G (p.Phe406Leu)

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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 RCV005332808 SCV005993759 uncertain significance not specified 2025-03-06 criteria provided, single submitter clinical testing The c.1308C>G (p.F436L) alteration is located in exon 9 (coding exon 9) of the ABCA2 gene. This alteration results from a C to G substitution at nucleotide position 1308, causing the phenylalanine (F) at amino acid position 436 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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