ClinVar Miner

Submissions for variant NM_030940.4(ISCA1):c.20G>C (p.Arg7Pro)

dbSNP: rs766827180
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003337860 SCV004048228 uncertain significance Multiple mitochondrial dysfunctions syndrome 5 criteria provided, single submitter clinical testing The missense variant c.20G>C (p.Arg7Pro) in ISCA1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Arg7Pro variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Arg at position 7 is changed to a Pro changing protein sequence and it might alter its composition and physico-chemical properties. In silico tools predict the variant to be tolerated. The residue is conserved across species. The amino acid change p.Arg7Pro in ISCA1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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