ClinVar Miner

Submissions for variant NM_001010867.4(IBA57):c.506C>T (p.Ala169Val)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002469784 SCV002765658 uncertain significance not provided 2022-12-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002569367 SCV003262838 uncertain significance Multiple mitochondrial dysfunctions syndrome 3; Hereditary spastic paraplegia 74 2023-08-17 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 169 of the IBA57 protein (p.Ala169Val). This variant is present in population databases (rs745621556, gnomAD 0.003%). 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: 1804483). 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 not expected to disrupt IBA57 protein function. 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.
Ambry Genetics RCV002569366 SCV003609365 uncertain significance Inborn genetic diseases 2022-06-03 criteria provided, single submitter clinical testing The c.506C>T (p.A169V) alteration is located in exon 2 (coding exon 2) of the IBA57 gene. This alteration results from a C to T substitution at nucleotide position 506, causing the alanine (A) at amino acid position 169 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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