ClinVar Miner

Submissions for variant NC_000017.10:g.(?_73753076)_(73754632_?)del

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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 RCV001951592 SCV002245300 pathogenic Deficiency of galactokinase 2021-02-02 criteria provided, single submitter clinical testing This variant disrupts the C-terminus of the GALK1 protein. Other variant(s) that disrupt this region (p.Gln382*) have been determined to be pathogenic (PMID: 10790206). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with GALK1-related conditions. This variant results in the deletion of exon(s) 7-8 and part of exon 6 (c.842_*1061del) of the GALK1 gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product.

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