ClinVar Miner

Submissions for variant NM_173076.3(ABCA12):c.5869G>A (p.Asp1957Asn)

gnomAD frequency: 0.00001  dbSNP: rs991980283
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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 RCV002920568 SCV003656424 uncertain significance Inborn genetic diseases 2022-11-07 criteria provided, single submitter clinical testing The c.5869G>A (p.D1957N) alteration is located in exon 39 (coding exon 39) of the ABCA12 gene. This alteration results from a G to A substitution at nucleotide position 5869, causing the aspartic acid (D) at amino acid position 1957 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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