ClinVar Miner

Submissions for variant NM_144988.4(ALG14):c.310C>T (p.Arg104Ter)

gnomAD frequency: 0.00004  dbSNP: rs367570129
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000161137 SCV003247349 uncertain significance Congenital myasthenic syndrome 15 2022-08-08 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. ClinVar contains an entry for this variant (Variation ID: 183014). This premature translational stop signal has been observed in individual(s) with clinical features ALG14-related conditions (PMID: 23404334). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs367570129, gnomAD 0.008%). This sequence change creates a premature translational stop signal (p.Arg104*) in the ALG14 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in ALG14 cause disease.
GeneDx RCV003221829 SCV003918678 pathogenic not provided 2022-10-14 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25305004, 25159927, 23404334, 34908252)
OMIM RCV000161137 SCV000211855 pathogenic Congenital myasthenic syndrome 15 2013-03-01 no assertion criteria provided literature only

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