ClinVar Miner

Submissions for variant NM_000190.4(HMBS):c.530T>G (p.Leu177Arg)

dbSNP: rs118204108
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795368 SCV000934830 pathogenic not provided 2023-09-15 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt HMBS protein function. This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 177 of the HMBS protein (p.Leu177Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with acute intermittent porphyria (PMID: 1427766, 8081367, 9199558). ClinVar contains an entry for this variant (Variation ID: 1466). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000001531 SCV000021686 pathogenic Acute intermittent porphyria 1992-09-01 no assertion criteria provided literature only

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