ClinVar Miner

Submissions for variant NM_018834.6(MATR3):c.2264A>G (p.Asn755Ser)

gnomAD frequency: 0.00009  dbSNP: rs144637575
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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 RCV002049205 SCV002111513 uncertain significance Amyotrophic lateral sclerosis type 21 2022-11-07 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MATR3 protein function. ClinVar contains an entry for this variant (Variation ID: 1351334). This variant has not been reported in the literature in individuals affected with MATR3-related conditions. This variant is present in population databases (rs144637575, gnomAD 0.03%). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 755 of the MATR3 protein (p.Asn755Ser).
Ambry Genetics RCV003289119 SCV003970964 uncertain significance Inborn genetic diseases 2023-04-18 criteria provided, single submitter clinical testing The c.2264A>G (p.N755S) alteration is located in exon 16 (coding exon 12) of the MATR3 gene. This alteration results from a A to G substitution at nucleotide position 2264, causing the asparagine (N) at amino acid position 755 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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