ClinVar Miner

Submissions for variant NM_144988.4(ALG14):c.420+6_420+9del

dbSNP: rs1673843345
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001879959 SCV002169296 uncertain significance Congenital myasthenic syndrome 15 2021-07-14 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the ALG14 gene. It does not directly change the encoded amino acid sequence of the ALG14 protein. RNA analysis indicates that this variant induces altered splicing and likely results in a shortened protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of ALG14-related conditions (PMID: 30221345). ClinVar contains an entry for this variant (Variation ID: 978234). Studies have shown that this variant alters ALG14 gene expression (PMID: 30221345). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in skipping of exon 3, but is expected to preserve the integrity of the reading-frame (PMID: 30221345). 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.
GeneDx RCV002225815 SCV002504404 likely benign not provided 2018-08-13 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
OMIM RCV001256635 SCV001433008 pathogenic Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies 2020-10-05 no assertion criteria provided literature only

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