ClinVar Miner

Submissions for variant NM_033087.4(ALG2):c.449T>C (p.Phe150Ser)

gnomAD frequency: 0.00003  dbSNP: rs377047079
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698163 SCV000826807 uncertain significance ALG2-congenital disorder of glycosylation; Congenital myasthenic syndrome 14 2022-05-08 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 150 of the ALG2 protein (p.Phe150Ser). This variant is present in population databases (rs377047079, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with ALG2-related conditions. ClinVar contains an entry for this variant (Variation ID: 575832). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Baylor Genetics RCV001249285 SCV001530331 uncertain significance ALG2-congenital disorder of glycosylation 2018-03-23 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GenomeConnect, ClinGen RCV001249285 SCV001423233 not provided ALG2-congenital disorder of glycosylation no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 03-12-2014 by Lab or GTR ID 1006. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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