ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.13T>C (p.Phe5Leu)

gnomAD frequency: 0.00014  dbSNP: rs199754211
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000616315 SCV000730877 likely benign not specified 2018-01-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV002314171 SCV000848625 uncertain significance Inborn genetic diseases 2016-12-30 criteria provided, single submitter clinical testing The p.F5L variant (also known as c.13T>C), located in coding exon 1 of the ALG13 gene, results from a T to C substitution at nucleotide position 13. The phenylalanine at codon 5 is replaced by leucine, an amino acid with highly similar properties. 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.
Invitae RCV001033980 SCV001197304 likely benign Developmental and epileptic encephalopathy, 36 2024-01-24 criteria provided, single submitter clinical testing

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