ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.146T>A (p.Leu49His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002855001 SCV003634210 uncertain significance Inborn genetic diseases 2022-06-03 criteria provided, single submitter clinical testing The c.146T>A (p.L49H) alteration is located in exon 4 (coding exon 2) of the GABRA1 gene. This alteration results from a T to A substitution at nucleotide position 146, causing the leucine (L) at amino acid position 49 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Uskudar University, Department of Molecular Biology and Genetics, Uskudar University RCV002855001 SCV004174132 pathogenic Inborn genetic diseases 2023-02-18 criteria provided, single submitter research

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