ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.1007del (p.Asn336fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003012193 SCV003309813 uncertain significance Aspartylglucosaminuria 2022-09-13 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the AGA gene (p.Asn336Ilefs*29). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 11 amino acid(s) of the AGA protein and extend the protein by 17 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with AGA-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003404011 SCV004122662 uncertain significance not specified 2023-10-10 criteria provided, single submitter clinical testing Variant summary: AGA c.1007delA (p.Asn336IlefsX29) causes a frameshift which results in an extension of the protein. The variant was absent in 251182 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1007delA in individuals affected with Aspartylglucosaminuria and no experimental evidence demonstrating its impact on protein function have been reported. One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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