ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.3604G>A (p.Gly1202Arg)

gnomAD frequency: 0.00003  dbSNP: rs1439756712
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002004490 SCV002232797 uncertain significance Methylmalonic acidemia with homocystinuria, type cblX 2021-09-30 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 1202 of the HCFC1 protein (p.Gly1202Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with HCFC1-related conditions. 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"). 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 RCV003170133 SCV003880122 uncertain significance Inborn genetic diseases 2023-02-15 criteria provided, single submitter clinical testing The c.3604G>A (p.G1202R) alteration is located in exon 17 (coding exon 17) of the HCFC1 gene. This alteration results from a G to A substitution at nucleotide position 3604, causing the glycine (G) at amino acid position 1202 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003438907 SCV004165020 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing HCFC1: BS2

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