ClinVar Miner

Submissions for variant NM_024105.4(ALG12):c.415C>T (p.His139Tyr)

gnomAD frequency: 0.00001  dbSNP: rs200490756
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001864601 SCV002143312 uncertain significance ALG12-congenital disorder of glycosylation 2021-12-13 criteria provided, single submitter clinical testing This variant is present in population databases (rs200490756, gnomAD 0.006%). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with ALG12-related conditions. This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 139 of the ALG12 protein (p.His139Tyr).
Ambry Genetics RCV002551126 SCV003637054 uncertain significance Inborn genetic diseases 2022-08-17 criteria provided, single submitter clinical testing The c.415C>T (p.H139Y) alteration is located in exon 4 (coding exon 3) of the ALG12 gene. This alteration results from a C to T substitution at nucleotide position 415, causing the histidine (H) at amino acid position 139 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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