ClinVar Miner

Submissions for variant NM_004990.4(MARS1):c.1244G>T (p.Gly415Val)

dbSNP: rs1594821386
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988866 SCV001138760 uncertain significance Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002236000 SCV002509706 uncertain significance Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency; Charcot-Marie-Tooth disease axonal type 2U 2022-10-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MARS-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 415 of the MARS protein (p.Gly415Val). ClinVar contains an entry for this variant (Variation ID: 802867). 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. 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.

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