ClinVar Miner

Submissions for variant NM_001244710.2(GFPT1):c.245A>G (p.Asp82Gly)

gnomAD frequency: 0.00001  dbSNP: rs192925673
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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 RCV001246183 SCV001419523 uncertain significance Congenital myasthenic syndrome 12 2022-08-22 criteria provided, single submitter clinical testing 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 970588). This variant has not been reported in the literature in individuals affected with GFPT1-related conditions. This variant is present in population databases (rs192925673, gnomAD 0.007%). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 82 of the GFPT1 protein (p.Asp82Gly).
Ambry Genetics RCV004034855 SCV004875103 uncertain significance Inborn genetic diseases 2024-01-17 criteria provided, single submitter clinical testing The c.245A>G (p.D82G) alteration is located in exon 4 (coding exon 4) of the GFPT1 gene. This alteration results from a A to G substitution at nucleotide position 245, causing the aspartic acid (D) at amino acid position 82 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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