ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.800C>A (p.Pro267His)

dbSNP: rs750347526
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000798338 SCV000937950 uncertain significance Deficiency of hydroxymethylglutaryl-CoA lyase 2022-05-11 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with histidine, which is basic and polar, at codon 267 of the HMGCL protein (p.Pro267His). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with HMGCL-related conditions. ClinVar contains an entry for this variant (Variation ID: 644429). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Natera, Inc. RCV001825568 SCV002094152 uncertain significance Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2021-04-19 no assertion criteria provided clinical testing

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