ClinVar Miner

Submissions for variant NM_004990.4(MARS1):c.1454G>A (p.Trp485Ter)

gnomAD frequency: 0.00003  dbSNP: rs746422516
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002239240 SCV002509757 uncertain significance Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency; Charcot-Marie-Tooth disease axonal type 2U 2024-09-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp485*) in the MARS gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MARS cause disease. This variant is present in population databases (rs746422516, 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: 1681738). 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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