ClinVar Miner

Submissions for variant NM_138387.4(G6PC3):c.11C>T (p.Thr4Met)

gnomAD frequency: 0.00001  dbSNP: rs750937874
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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 RCV001301599 SCV001490774 uncertain significance Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 4 of the G6PC3 protein (p.Thr4Met). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and methionine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with G6PC3-related conditions. 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 methionine 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.
CeGaT Center for Human Genetics Tuebingen RCV004720843 SCV005329703 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing G6PC3: BP4

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