ClinVar Miner

Submissions for variant NM_018297.4(NGLY1):c.247-3C>A

gnomAD frequency: 0.00005  dbSNP: rs201806398
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001350235 SCV001544618 uncertain significance Congenital disorder of deglycosylation 2022-10-04 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the NGLY1 gene. It does not directly change the encoded amino acid sequence of the NGLY1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs201806398, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with NGLY1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1045770). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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 RCV001732133 SCV001982165 uncertain significance not provided 2021-09-24 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 17576681, 9536098)

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