ClinVar Miner

Submissions for variant NM_024120.5(NDUFAF5):c.25C>G (p.Arg9Gly)

dbSNP: rs768566143
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756415 SCV000884223 uncertain significance not provided 2018-05-11 criteria provided, single submitter clinical testing The NDUFAF5 c.25C>G; p.Arg9Gly variant (rs768566143), to our knowledge, is not reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.001% (identified on 3 out of 242,508 chromosomes). The arginine at position 9 is weakly conserved, considering 12 species, and computational analyses of the effects of the p.Arg9Gly variant on protein structure and function do not predict a deleterious effect (SIFT: tolerated, PolyPhen-2: benign). Based on the available information, the clinical significance of the p.Arg9Gly variant cannot be determined with certainty.
Natera, Inc. RCV001825493 SCV002092877 uncertain significance Mitochondrial complex I deficiency 2020-10-23 no assertion criteria provided clinical testing

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