ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.86C>T (p.Pro29Leu)

gnomAD frequency: 0.00003  dbSNP: rs200218956
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000585014 SCV000241102 uncertain significance not provided 2018-08-21 criteria provided, single submitter clinical testing p.Pro29Leu (CCG>CTG): c.86 C>T in exon 4 of the GABRA1 gene (NM_000806.5). The P29L variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The P29L variant is observed in 1/6574 (0.02%) alleles from individuals of Finnish background and in 8/66468 (0.01%) alleles from individuals of non-Finnish European background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The P29L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, this substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.The variant is found in EPILEPSY panel(s).
CeGaT Center for Human Genetics Tuebingen RCV000585014 SCV000693195 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing GABRA1: PP2, BP4, BS1:Supporting
Labcorp Genetics (formerly Invitae), Labcorp RCV001068548 SCV001233666 benign Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 2024-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372147 SCV002684138 likely benign Inborn genetic diseases 2018-06-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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