ClinVar Miner

Submissions for variant NM_004990.4(MARS1):c.415-5C>G

dbSNP: rs747351446
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001220067 SCV001392040 uncertain significance Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency; Charcot-Marie-Tooth disease axonal type 2U 2023-04-19 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 948750). This variant has not been reported in the literature in individuals affected with MARS-related conditions. This variant is present in population databases (rs747351446, gnomAD 0.0009%). This sequence change falls in intron 4 of the MARS gene. It does not directly change the encoded amino acid sequence of the MARS protein.

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