ClinVar Miner

Submissions for variant NM_021930.6(RINT1):c.390del (p.Ile131fs)

dbSNP: rs771302691
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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 RCV001361384 SCV001557359 pathogenic not provided 2023-10-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile131Leufs*6) 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 (rs771302691, gnomAD 0.006%). 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: 1053086). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV004036802 SCV002621001 uncertain significance not specified 2023-06-18 criteria provided, single submitter clinical testing The c.390delC variant, located in coding exon 4 of the RINT1 gene, results from a deletion of one nucleotide at nucleotide position 390, causing a translational frameshift with a predicted alternate stop codon (p.I131Lfs*6). This alteration is expected to result in premature protein truncation or nonsense-mediated mRNA decay. However, the gene-disease association for RINT1 is limited. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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