ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.1079C>T (p.Pro360Leu)

dbSNP: rs80337021
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001522130 SCV001731608 benign Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 2023-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002568766 SCV003564310 uncertain significance Inborn genetic diseases 2021-06-07 criteria provided, single submitter clinical testing The c.1079C>T (p.P360L) alteration is located in exon 11 (coding exon 9) of the GABRA1 gene. This alteration results from a C to T substitution at nucleotide position 1079, causing the proline (P) at amino acid position 360 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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