ClinVar Miner

Submissions for variant NM_001024845.3(SLC6A9):c.1871_1877del (p.Gly624fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003023016 SCV003320374 uncertain significance Atypical glycine encephalopathy 2022-03-15 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the SLC6A9 gene (p.Gly697Alafs*29). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 10 amino acid(s) of the SLC6A9 protein and extend the protein by 18 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 SLC6A9-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.

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