ClinVar Miner

Submissions for variant NM_002887.4(RARS1):c.825dup (p.Ser276fs)

dbSNP: rs780133021
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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 RCV002238053 SCV002508006 pathogenic not provided 2023-05-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1680417). This variant has not been reported in the literature in individuals affected with RARS-related conditions. This variant is present in population databases (rs780133021, gnomAD 0.03%). This sequence change creates a premature translational stop signal (p.Ser276Ilefs*2) in the RARS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RARS are known to be pathogenic (PMID: 24777941).
GeneDx RCV002238053 SCV003842896 uncertain significance not provided 2022-09-19 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge

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