ClinVar Miner

Submissions for variant NM_001010867.4(IBA57):c.305T>G (p.Val102Gly)

gnomAD frequency: 0.00003  dbSNP: rs759005478
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714872 SCV000845618 uncertain significance not specified 2018-08-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532983 SCV003514231 uncertain significance Multiple mitochondrial dysfunctions syndrome 3; Hereditary spastic paraplegia 74 2021-12-21 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 102 of the IBA57 protein (p.Val102Gly). This variant is present in population databases (rs759005478, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with IBA57-related conditions. ClinVar contains an entry for this variant (Variation ID: 587628). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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