ClinVar Miner

Submissions for variant NM_014362.4(HIBCH):c.1036G>A (p.Val346Ile)

gnomAD frequency: 0.00009  dbSNP: rs367938014
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001779905 SCV002015799 uncertain significance not provided 2021-11-09 criteria provided, single submitter clinical testing 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 RCV001868830 SCV002107611 uncertain significance 3-hydroxyisobutyryl-CoA hydrolase deficiency 2021-11-04 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 346 of the HIBCH protein (p.Val346Ile). This variant is present in population databases (rs367938014, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with HIBCH-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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 RCV003163921 SCV003888154 uncertain significance Inborn genetic diseases 2023-02-10 criteria provided, single submitter clinical testing The c.1036G>A (p.V346I) alteration is located in exon 13 (coding exon 13) of the HIBCH gene. This alteration results from a G to A substitution at nucleotide position 1036, causing the valine (V) at amino acid position 346 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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