ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.880C>G (p.Pro294Ala)

gnomAD frequency: 0.00005  dbSNP: rs753556936
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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 RCV002316788 SCV000850519 uncertain significance Inborn genetic diseases 2017-03-15 criteria provided, single submitter clinical testing The p.P294A variant (also known as c.880C>G), located in coding exon 6 of the ALG13 gene, results from a C to G substitution at nucleotide position 880. The proline at codon 294 is replaced by alanine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001444513 SCV001647518 likely benign Developmental and epileptic encephalopathy, 36 2024-04-19 criteria provided, single submitter clinical testing

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