ClinVar Miner

Submissions for variant NM_173076.3(ABCA12):c.713A>G (p.Asn238Ser)

gnomAD frequency: 0.00001  dbSNP: rs1280886092
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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 RCV003291818 SCV003970668 uncertain significance Inborn genetic diseases 2023-04-19 criteria provided, single submitter clinical testing The c.713A>G (p.N238S) alteration is located in exon 7 (coding exon 7) of the ABCA12 gene. This alteration results from a A to G substitution at nucleotide position 713, causing the asparagine (N) at amino acid position 238 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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