ClinVar Miner

Submissions for variant NM_144988.4(ALG14):c.626C>T (p.Ser209Leu)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002631532 SCV002963687 uncertain significance Congenital myasthenic syndrome 15 2022-03-06 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 209 of the ALG14 protein (p.Ser209Leu). This variant is present in population databases (rs754944986, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with ALG14-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002605500 SCV003745971 uncertain significance Inborn genetic diseases 2022-11-08 criteria provided, single submitter clinical testing The c.626C>T (p.S209L) alteration is located in exon 4 (coding exon 4) of the ALG14 gene. This alteration results from a C to T substitution at nucleotide position 626, causing the serine (S) at amino acid position 209 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV002631532 SCV004049459 uncertain significance Congenital myasthenic syndrome 15 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003348878 SCV004049460 uncertain significance Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003348879 SCV004049461 uncertain significance Myopathy, epilepsy, and progressive cerebral atrophy 2023-04-11 criteria provided, single submitter clinical testing

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