ClinVar Miner

Submissions for variant NM_005051.3(QARS1):c.2293del (p.Thr765fs)

dbSNP: rs2107087591
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002037202 SCV002111329 uncertain significance not provided 2020-11-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr765Leufs*4) in the QARS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 11 amino acid(s) of the QARS protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with QARS-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Revvity Omics, Revvity RCV003132547 SCV003810428 uncertain significance Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 2019-09-26 criteria provided, single submitter clinical testing

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