ClinVar Miner

Submissions for variant NM_001010867.4(IBA57):c.1033G>A (p.Ala345Thr)

dbSNP: rs150912462
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000694436 SCV000822882 uncertain significance Multiple mitochondrial dysfunctions syndrome 3; Hereditary spastic paraplegia 74 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 345 of the IBA57 protein (p.Ala345Thr). This variant is present in population databases (rs150912462, gnomAD 0.03%). 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: 572919). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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 RCV002532264 SCV003683981 uncertain significance Inborn genetic diseases 2022-11-30 criteria provided, single submitter clinical testing The c.1033G>A (p.A345T) alteration is located in exon 3 (coding exon 3) of the IBA57 gene. This alteration results from a G to A substitution at nucleotide position 1033, causing the alanine (A) at amino acid position 345 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV003442033 SCV004169558 uncertain significance not provided 2023-04-11 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function

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