ClinVar Miner

Submissions for variant NM_021930.6(RINT1):c.1966C>T (p.Arg656Ter)

gnomAD frequency: 0.00002  dbSNP: rs780062646
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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 RCV001301576 SCV001490749 pathogenic not provided 2024-03-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg656*) 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 (rs780062646, gnomAD 0.01%). 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: 1004811). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV004036210 SCV003989537 uncertain significance not specified 2023-03-27 criteria provided, single submitter clinical testing The p.R656* variant (also known as c.1966C>T), located in coding exon 13 of the RINT1 gene, results from a C to T substitution at nucleotide position 1966. This changes the amino acid from an arginine to a stop codon within coding exon 13. 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.

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