ClinVar Miner

Submissions for variant NM_015713.5(RRM2B):c.786G>T (p.Glu262Asp)

dbSNP: rs1810682433
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ramesar Group, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, UCT/MRC Genomic and Precision Medicine Research Unit, University of Cape Town RCV001254943 SCV001429699 likely pathogenic Sensorineural hearing loss disorder; Rod-cone dystrophy; Renal Fanconi syndrome 2020-05-20 criteria provided, single submitter research
Invitae RCV001879920 SCV002262131 uncertain significance not provided 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 262 of the RRM2B protein (p.Glu262Asp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of autosomal recessive mitochondrial DNA depletion syndrome (PMID: 32827185). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 977276). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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.
OMIM RCV001841197 SCV002102400 pathogenic Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction 2022-03-01 no assertion criteria provided literature only

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