ClinVar Miner

Submissions for variant NM_001606.5(ABCA2):c.4145C>T (p.Ala1382Val)

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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 RCV004920880 SCV005581086 uncertain significance not specified 2024-11-13 criteria provided, single submitter clinical testing The c.4235C>T (p.A1412V) alteration is located in exon 27 (coding exon 27) of the ABCA2 gene. This alteration results from a C to T substitution at nucleotide position 4235, causing the alanine (A) at amino acid position 1412 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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