ClinVar Miner

Submissions for variant NM_001010867.4(IBA57):c.802C>T (p.Arg268Cys)

dbSNP: rs1332185635
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002015501 SCV002285054 uncertain significance Multiple mitochondrial dysfunctions syndrome 3; Hereditary spastic paraplegia 74 2022-09-12 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt IBA57 protein function. ClinVar contains an entry for this variant (Variation ID: 1496294). This missense change has been observed in individual(s) with multiple mitochondrial dysfunctions syndrome (PMID: 29353736, 32180488). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 268 of the IBA57 protein (p.Arg268Cys).

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