ClinVar Miner

Submissions for variant NM_144988.4(ALG14):c.532G>A (p.Val178Ile)

gnomAD frequency: 0.00012  dbSNP: rs373069354
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001918816 SCV002186489 uncertain significance Congenital myasthenic syndrome 15 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 178 of the ALG14 protein (p.Val178Ile). This variant is present in population databases (rs373069354, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with ALG14-related conditions. ClinVar contains an entry for this variant (Variation ID: 1411371). 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: "Probably 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 RCV002556301 SCV003695323 uncertain significance Inborn genetic diseases 2021-08-04 criteria provided, single submitter clinical testing The c.532G>A (p.V178I) alteration is located in exon 4 (coding exon 4) of the ALG14 gene. This alteration results from a G to A substitution at nucleotide position 532, causing the valine (V) at amino acid position 178 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV001918816 SCV004049469 uncertain significance Congenital myasthenic syndrome 15 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003348616 SCV004049470 uncertain significance Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003348617 SCV004049471 uncertain significance Myopathy, epilepsy, and progressive cerebral atrophy 2023-04-11 criteria provided, single submitter clinical testing

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