ClinVar Miner

Submissions for variant NM_173076.3(ABCA12):c.3026A>T (p.Asn1009Ile)

dbSNP: rs780203862
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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 RCV004375906 SCV004857868 uncertain significance Inborn genetic diseases 2024-03-05 criteria provided, single submitter clinical testing The c.3026A>T (p.N1009I) alteration is located in exon 22 (coding exon 22) of the ABCA12 gene. This alteration results from a A to T substitution at nucleotide position 3026, causing the asparagine (N) at amino acid position 1009 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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