ClinVar Miner

Submissions for variant NM_021930.6(RINT1):c.1849G>T (p.Glu617Ter)

dbSNP: rs1421126665
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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 RCV000796469 SCV000935983 pathogenic not provided 2023-03-04 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with RINT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 642915). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Glu617*) in the RINT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RINT1 are known to be pathogenic (PMID: 31204009).

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