ClinVar Miner

Submissions for variant NM_021930.6(RINT1):c.2182A>T (p.Lys728Ter)

dbSNP: rs2133481694
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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 RCV001934436 SCV002214432 uncertain significance not provided 2021-10-25 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with RINT1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys728*) in the RINT1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 65 amino acid(s) of the RINT1 protein.
Ambry Genetics RCV004043057 SCV003913651 uncertain significance not specified 2023-02-27 criteria provided, single submitter clinical testing The p.K728* variant (also known as c.2182A>T), located in coding exon 14 of the RINT1 gene, results from an A to T substitution at nucleotide position 2182. This changes the amino acid from a lysine to a stop codon within coding exon 14. This alteration is expected to result in premature protein truncation. However, the evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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