ClinVar Miner

Submissions for variant NM_001606.5(ABCA2):c.4243G>A (p.Val1415Met)

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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 RCV004921166 SCV005580458 uncertain significance not specified 2024-08-12 criteria provided, single submitter clinical testing The c.4333G>A (p.V1445M) alteration is located in exon 28 (coding exon 28) of the ABCA2 gene. This alteration results from a G to A substitution at nucleotide position 4333, causing the valine (V) at amino acid position 1445 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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