ClinVar Miner

Submissions for variant NM_144988.4(ALG14):c.599C>T (p.Pro200Leu)

dbSNP: rs1014644772
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001350000 SCV001544370 uncertain significance Congenital myasthenic syndrome 15 2022-07-05 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 200 of the ALG14 protein (p.Pro200Leu). This variant is present in population databases (no rsID available, gnomAD 0.009%). 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: 1045564). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0". The leucine 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 RCV002545625 SCV003542327 uncertain significance Inborn genetic diseases 2021-06-22 criteria provided, single submitter clinical testing The c.599C>T (p.P200L) 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 599, causing the proline (P) at amino acid position 200 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV001350000 SCV004049462 uncertain significance Congenital myasthenic syndrome 15 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003346506 SCV004049463 uncertain significance Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003346507 SCV004049464 uncertain significance Myopathy, epilepsy, and progressive cerebral atrophy 2023-04-11 criteria provided, single submitter clinical testing

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