ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.95G>A (p.Arg32His)

gnomAD frequency: 0.00003  dbSNP: rs767622790
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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 RCV000650292 SCV000772133 uncertain significance Hereditary spastic paraplegia 49 2022-06-04 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 32 of the TECPR2 protein (p.Arg32His). This variant is present in population databases (rs767622790, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with TECPR2-related conditions. ClinVar contains an entry for this variant (Variation ID: 540298). 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: "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.
Ambry Genetics RCV004025803 SCV004963809 uncertain significance Inborn genetic diseases 2023-12-26 criteria provided, single submitter clinical testing The c.95G>A (p.R32H) alteration is located in exon 2 (coding exon 1) of the TECPR2 gene. This alteration results from a G to A substitution at nucleotide position 95, causing the arginine (R) at amino acid position 32 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000650292 SCV002087992 uncertain significance Hereditary spastic paraplegia 49 2019-11-11 no assertion criteria provided clinical testing

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