ClinVar Miner

Submissions for variant NM_021930.6(RINT1):c.1317G>C (p.Leu439Phe)

gnomAD frequency: 0.00010  dbSNP: rs150180546
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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 RCV000823920 SCV000964793 uncertain significance not provided 2024-04-29 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 439 of the RINT1 protein (p.Leu439Phe). This variant is present in population databases (rs150180546, gnomAD 0.02%). 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: 665600). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000823920 SCV002011409 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029166 SCV002691722 uncertain significance not specified 2024-12-04 criteria provided, single submitter clinical testing The c.1317G>C (p.L439F) alteration is located in exon 9 (coding exon 9) of the RINT1 gene. This alteration results from a G to C substitution at nucleotide position 1317, causing the leucine (L) at amino acid position 439 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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