ClinVar Miner

Submissions for variant NM_024740.2(ALG9):c.1502T>A (p.Phe501Tyr)

gnomAD frequency: 0.00001  dbSNP: rs541537158
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001785234 SCV002025777 uncertain significance ALG9 congenital disorder of glycosylation 2020-04-30 criteria provided, single submitter clinical testing The heterozygous p.Phe330Tyr variant identified in ALG9 has not been reported in affected individuals in the literature. The variant has 0.00001202 allele frequency in the gnomAD database (3 out of 249,488 heterozygous alleles) indicating that it is an extremely rare allele in the general population. The variant affects an evolutionarily conserved residue and is predicted deleterious by a variety of in silico prediction tools. However, functional studies are required to evaluate the potential consequences of this variant on normal functioning of the enzyme. Based on the available evidence, the p.Phe330Tyr variant in the ALG9 gene is accessed as a variant of uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV002503274 SCV002815567 uncertain significance ALG9 congenital disorder of glycosylation; Gillessen-Kaesbach-Nishimura syndrome 2021-07-21 criteria provided, single submitter clinical testing

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