ClinVar Miner

Submissions for variant NM_173076.3(ABCA12):c.352G>A (p.Asp118Asn)

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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 RCV004616674 SCV005108254 uncertain significance Inborn genetic diseases 2024-06-17 criteria provided, single submitter clinical testing The c.352G>A (p.D118N) alteration is located in exon 4 (coding exon 4) of the ABCA12 gene. This alteration results from a G to A substitution at nucleotide position 352, causing the aspartic acid (D) at amino acid position 118 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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