ClinVar Miner

Submissions for variant NM_173076.3(ABCA12):c.1062G>T (p.Gln354His)

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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 RCV004976902 SCV005565858 uncertain significance Inborn genetic diseases 2024-11-29 criteria provided, single submitter clinical testing The c.1062G>T (p.Q354H) alteration is located in exon 10 (coding exon 10) of the ABCA12 gene. This alteration results from a G to T substitution at nucleotide position 1062, causing the glutamine (Q) at amino acid position 354 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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