ClinVar Miner

Submissions for variant NM_021930.6(RINT1):c.1773_1776dup (p.Asp593delinsLeuTer)

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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 RCV002917255 SCV003249021 pathogenic not provided 2022-04-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp593Leufs*2) 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 (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with RINT1-related conditions. For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV004066062 SCV003855070 uncertain significance not specified 2022-11-04 criteria provided, single submitter clinical testing The c.1773_1776dupCTTT variant, located in coding exon 12 of the RINT1 gene, results from a duplication of CTTT at nucleotide position 1773, causing a translational frameshift with a predicted alternate stop codon (p.D593Lfs*2). 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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