ClinVar Miner

Submissions for variant NM_004990.4(MARS1):c.365C>A (p.Thr122Asn)

gnomAD frequency: 0.00003  dbSNP: rs201007223
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554258 SCV000655639 uncertain significance Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency; Charcot-Marie-Tooth disease axonal type 2U 2023-12-04 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 122 of the MARS protein (p.Thr122Asn). This variant is present in population databases (rs201007223, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with MARS-related conditions. ClinVar contains an entry for this variant (Variation ID: 475424). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital RCV002245011 SCV002512781 uncertain significance See cases criteria provided, single submitter clinical testing This variant has been observed at low frequencies in the general population (3 of 251,478 alleles; gnomAD). To our knowledge, it has not been reported as pathogenic in the medical literature.
Revvity Omics, Revvity RCV003133353 SCV003808277 uncertain significance not provided 2021-06-02 criteria provided, single submitter clinical testing
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital RCV003446155 SCV004174067 uncertain significance Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency no assertion criteria provided clinical testing

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