ClinVar Miner

Submissions for variant NM_001286445.3(RIPOR2):c.1130C>T (p.Pro377Leu)

gnomAD frequency: 0.00022  dbSNP: rs201901775
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000826034 SCV000967525 uncertain significance not specified 2018-12-04 criteria provided, single submitter clinical testing The p.Pro348Leu variant in RIPOR2 has not been previously reported in individual s with hearing loss but has been identified in 0.09% (32/35362) of Latino chromo somes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction too ls and conservation analysis do not provide strong support for or against an imp act to the protein. In summary, the clinical significance of the p.Pro348Leu var iant is uncertain. ACMG/AMP Criteria applied: BS1_Supporting.
GeneDx RCV001759631 SCV002007058 likely benign not provided 2019-10-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001759631 SCV002508163 uncertain significance not provided 2024-11-11 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 348 of the FAM65B protein (p.Pro348Leu). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with FAM65B-related conditions. ClinVar contains an entry for this variant (Variation ID: 667323). 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.
Ambry Genetics RCV000826034 SCV005014160 uncertain significance not specified 2024-07-26 criteria provided, single submitter clinical testing The c.1043C>T (p.P348L) alteration is located in exon 12 (coding exon 11) of the FAM65B gene. This alteration results from a C to T substitution at nucleotide position 1043, causing the proline (P) at amino acid position 348 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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