ClinVar Miner

Submissions for variant NM_018834.6(MATR3):c.2038G>A (p.Asp680Asn)

gnomAD frequency: 0.00002  dbSNP: rs752161415
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000540960 SCV000653842 uncertain significance Amyotrophic lateral sclerosis type 21 2023-10-24 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 680 of the MATR3 protein (p.Asp680Asn). This variant is present in population databases (rs752161415, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with MATR3-related conditions. ClinVar contains an entry for this variant (Variation ID: 474081). 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 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.
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000540960 SCV000930221 uncertain significance Amyotrophic lateral sclerosis type 21 2019-04-27 criteria provided, single submitter clinical testing
New York Genome Center RCV000540960 SCV002506746 uncertain significance Amyotrophic lateral sclerosis type 21 2021-05-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV003362844 SCV004073188 uncertain significance Inborn genetic diseases 2023-06-16 criteria provided, single submitter clinical testing The c.2038G>A (p.D680N) alteration is located in exon 15 (coding exon 11) of the MATR3 gene. This alteration results from a G to A substitution at nucleotide position 2038, causing the aspartic acid (D) at amino acid position 680 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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