ClinVar Miner

Submissions for variant NM_024105.4(ALG12):c.1456C>T (p.Arg486Trp)

gnomAD frequency: 0.00003  dbSNP: rs745477655
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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 RCV001994025 SCV002260073 uncertain significance ALG12-congenital disorder of glycosylation 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 486 of the ALG12 protein (p.Arg486Trp). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs745477655, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with ALG12-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Ambry Genetics RCV004631898 SCV005128300 uncertain significance Inborn genetic diseases 2024-04-24 criteria provided, single submitter clinical testing The c.1456C>T (p.R486W) alteration is located in exon 10 (coding exon 9) of the ALG12 gene. This alteration results from a C to T substitution at nucleotide position 1456, causing the arginine (R) at amino acid position 486 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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