ClinVar Miner

Submissions for variant NM_024740.2(ALG9):c.1819C>T (p.Arg607Trp)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004405813 SCV004888502 uncertain significance Inborn genetic diseases 2023-12-12 criteria provided, single submitter clinical testing The c.1819C>T (p.R607W) alteration is located in exon 15 (coding exon 15) of the ALG9 gene. This alteration results from a C to T substitution at nucleotide position 1819, causing the arginine (R) at amino acid position 607 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005040650 SCV005680963 uncertain significance ALG9 congenital disorder of glycosylation; Gillessen-Kaesbach-Nishimura syndrome 2023-12-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005104483 SCV005803739 uncertain significance ALG9 congenital disorder of glycosylation 2024-08-31 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 607 of the ALG9 protein (p.Arg607Trp). This variant is present in population databases (rs781849410, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ALG9-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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