ClinVar Miner

Submissions for variant NM_014362.4(HIBCH):c.830T>A (p.Val277Glu)

dbSNP: rs1553499757
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000578248 SCV000680257 likely pathogenic 3-hydroxyisobutyryl-CoA hydrolase deficiency 2017-12-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002530365 SCV003597976 uncertain significance Inborn genetic diseases 2022-01-05 criteria provided, single submitter clinical testing The c.830T>A (p.V277E) alteration is located in exon 11 (coding exon 11) of the HIBCH gene. This alteration results from a T to A substitution at nucleotide position 830, causing the valine (V) at amino acid position 277 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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