ClinVar Miner

Submissions for variant NM_194279.4(ISCA2):c.314G>T (p.Arg105Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV003391157 SCV004101669 uncertain significance Multiple mitochondrial dysfunctions syndrome 4 2023-09-20 criteria provided, single submitter clinical testing A homozygous missense variant in exon 4 of the ISCA2 gene that results in the amino acid substitution of Isoleucine for Arginine at codon 105 (p.Arg105Ile) was detected. The p.Arg105Ile variant has not been reported in the 1000 genomes, gnomAD (v3.1), gnomdAD (v2) and topmed databases. The in silico predictions of the variant are possibly damaging by PolyPhen-2 (HumDiv) and damaging by SIFT and LRT. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as variant of uncertain significance.

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