ClinVar Miner

Submissions for variant NM_138387.4(G6PC3):c.809A>G (p.Tyr270Cys)

gnomAD frequency: 0.00001  dbSNP: rs749505455
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001507888 SCV001713719 uncertain significance not provided 2019-05-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859344 SCV002286935 uncertain significance Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 2022-02-05 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 270 of the G6PC3 protein (p.Tyr270Cys). This variant is present in population databases (rs749505455, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with G6PC3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1163100). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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