ClinVar Miner

Submissions for variant NM_017986.4(SLC52A1):c.707G>A (p.Gly236Glu)

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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 RCV005098745 SCV003323849 uncertain significance not provided 2025-01-07 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 236 of the SLC52A1 protein (p.Gly236Glu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SLC52A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2108024). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt SLC52A1 protein function with a negative predictive value of 80%. 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 RCV004068632 SCV003904049 uncertain significance not specified 2023-02-16 criteria provided, single submitter clinical testing The c.707G>A (p.G236E) alteration is located in exon 3 (coding exon 2) of the SLC52A1 gene. This alteration results from a G to A substitution at nucleotide position 707, causing the glycine (G) at amino acid position 236 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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