ClinVar Miner

Submissions for variant NM_001351169.2(NT5C2):c.1172A>G (p.Glu391Gly)

dbSNP: rs775006132
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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 RCV000543546 SCV000655017 uncertain significance Hereditary spastic paraplegia 45 2017-02-07 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glycine at codon 391 of the NT5C2 protein (p.Glu391Gly). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and glycine. The frequency data for this variant (rs775006132) in the population databases is unreliable, as metrics indicate poor quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with a NT5C2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). In summary, this variant is a missense change with unknown frequency in the general population and with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV003380622 SCV004089850 uncertain significance Inborn genetic diseases 2023-08-10 criteria provided, single submitter clinical testing The c.1172A>G (p.E391G) alteration is located in exon 1 (coding exon 1) of the NT5C2 gene. This alteration results from a A to G substitution at nucleotide position 1172, causing the glutamic acid (E) at amino acid position 391 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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