ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.339A>T (p.Leu113Phe) (rs1554085513)

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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 RCV000624127 SCV000742275 uncertain significance Inborn genetic diseases 2017-03-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717220 SCV000848069 uncertain significance Seizures 2016-10-18 criteria provided, single submitter clinical testing The p.L113F variant (also known as c.339A>T), located in coding exon 4 of the GABRA1 gene, results from an A to T substitution at nucleotide position 339. The leucine at codon 113 is replaced by phenylalanine, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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