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
Labcorp Genetics (formerly Invitae), Labcorp RCV000798338 SCV000937950 uncertain significance Deficiency of hydroxymethylglutaryl-CoA lyase 2022-05-11 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 644429). This variant has not been reported in the literature in individuals affected with HMGCL-related conditions. This variant is not present in population databases (gnomAD no frequency). 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).
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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