ClinVar Miner

Submissions for variant NM_144988.4(ALG14):c.181A>G (p.Asn61Asp)

gnomAD frequency: 0.00009  dbSNP: rs577399329
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001905325 SCV002132963 uncertain significance Congenital myasthenic syndrome 15 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 61 of the ALG14 protein (p.Asn61Asp). This variant is present in population databases (rs577399329, gnomAD 0.04%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The aspartic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002550319 SCV003712997 uncertain significance Inborn genetic diseases 2022-03-29 criteria provided, single submitter clinical testing The c.181A>G (p.N61D) alteration is located in exon 2 (coding exon 2) of the ALG14 gene. This alteration results from a A to G substitution at nucleotide position 181, causing the asparagine (N) at amino acid position 61 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV001905325 SCV004049495 uncertain significance Congenital myasthenic syndrome 15 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003348546 SCV004049496 uncertain significance Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003348547 SCV004049497 uncertain significance Myopathy, epilepsy, and progressive cerebral atrophy 2023-04-11 criteria provided, single submitter clinical testing

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