ClinVar Miner

Submissions for variant NM_018834.6(MATR3):c.379C>T (p.Arg127Cys)

gnomAD frequency: 0.00003  dbSNP: rs768516057
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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 RCV001896613 SCV002168817 uncertain significance Amyotrophic lateral sclerosis type 21 2022-08-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 127 of the MATR3 protein (p.Arg127Cys). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1400201). This variant has not been reported in the literature in individuals affected with MATR3-related conditions. This variant is present in population databases (rs768516057, gnomAD 0.002%).
Ambry Genetics RCV004041733 SCV004903391 uncertain significance Inborn genetic diseases 2023-12-15 criteria provided, single submitter clinical testing The c.379C>T (p.R127C) alteration is located in exon 5 (coding exon 1) of the MATR3 gene. This alteration results from a C to T substitution at nucleotide position 379, causing the arginine (R) at amino acid position 127 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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