ClinVar Miner

Submissions for variant NM_021930.6(RINT1):c.1555C>T (p.Arg519Ter)

gnomAD frequency: 0.00004  dbSNP: rs759853907
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001997535 SCV002230293 pathogenic not provided 2023-11-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg519*) 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). This variant is present in population databases (rs759853907, gnomAD 0.004%). 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: 1449407). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV004043919 SCV002708839 uncertain significance not specified 2022-10-05 criteria provided, single submitter clinical testing The p.R519* variant (also known as c.1555C>T), located in coding exon 11 of the RINT1 gene, results from a C to T substitution at nucleotide position 1555. This changes the amino acid from an arginine to a stop codon within coding exon 11. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) RCV003336470 SCV003918810 pathogenic RINT1-related disorder 2023-04-20 criteria provided, single submitter research

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