ClinVar Miner

Submissions for variant NM_004990.4(MARS1):c.906_919delinsCTC (p.Gln302fs) (rs1555166943)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000549972 SCV000655650 uncertain significance Interstitial lung and liver disease; Charcot-Marie-Tooth disease, axonal, type 2u 2016-11-26 criteria provided, single submitter clinical testing This sequence change deletes 14 and inserts 3 nucleotides in exon 9 of the MARS mRNA (c.906_919delinsCTC), causing a frameshift at codon 302. This creates a premature translational stop signal (p.Gln302Hisfs*8) and is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a MARS-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MARS cause disease. Therefore, this variant has been classified as a Variant of Uncertain Significance.

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