ClinVar Miner

Submissions for variant NM_144988.4(ALG14):c.328G>A (p.Glu110Lys)

gnomAD frequency: 0.00001  dbSNP: rs976380616
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001896474 SCV002165030 uncertain significance Congenital myasthenic syndrome 15 2022-05-20 criteria provided, single submitter clinical testing 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. 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with ALG14-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 110 of the ALG14 protein (p.Glu110Lys).
Ambry Genetics RCV004041467 SCV004889677 uncertain significance Inborn genetic diseases 2024-01-29 criteria provided, single submitter clinical testing The c.328G>A (p.E110K) alteration is located in exon 3 (coding exon 3) of the ALG14 gene. This alteration results from a G to A substitution at nucleotide position 328, causing the glutamic acid (E) at amino acid position 110 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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