ClinVar Miner

Submissions for variant NM_000190.4(HMBS):c.500G>C (p.Arg167Pro)

dbSNP: rs118204095
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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 RCV002017727 SCV002298158 likely pathogenic not provided 2021-10-11 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Arg167 amino acid residue in HMBS. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 2243128, 7962538, 9199558, 12372055, 12773194, 15003823, 27539938). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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. This missense change has been observed in individual(s) with acute intermittent porphyria (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with proline at codon 167 of the HMBS protein (p.Arg167Pro). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and proline.
Fulgent Genetics, Fulgent Genetics RCV005042682 SCV005680587 pathogenic Acute intermittent porphyria; Encephalopathy, porphyria-related; Leukoencephalopathy, porphyria-related 2024-04-08 criteria provided, single submitter clinical testing

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