ClinVar Miner

Submissions for variant NM_001606.5(ABCA2):c.3541C>A (p.His1181Asn)

dbSNP: rs2491524381
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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 RCV004389361 SCV004872065 uncertain significance not specified 2023-10-05 criteria provided, single submitter clinical testing The c.3631C>A (p.H1211N) alteration is located in exon 24 (coding exon 24) of the ABCA2 gene. This alteration results from a C to A substitution at nucleotide position 3631, causing the histidine (H) at amino acid position 1211 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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