ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.1304A>G (p.Asn435Ser)

gnomAD frequency: 0.00004  dbSNP: rs747478031
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413835 SCV000492065 uncertain significance not specified 2016-11-22 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ALG13 gene. The N435S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The N435S variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. In silico analysis predicts this variant likely does not alter the protein structure/function. However, this variant was not observed in approximately 5,100 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000650333 SCV000772176 likely benign Developmental and epileptic encephalopathy, 36 2024-01-04 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000413835 SCV005621655 benign not specified 2024-11-05 criteria provided, single submitter clinical testing

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