ClinVar Miner

Submissions for variant NM_000190.4(HMBS):c.1A>G (p.Met1Val)

dbSNP: rs118204118
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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 RCV001851553 SCV002273231 uncertain significance not provided 2022-07-06 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the HMBS mRNA. The next in-frame methionine is located at codon 18. This variant is not present in population databases (gnomAD no frequency). Disruption of the initiator codon has been observed in individual(s) with clinical features of HMBS-related conditions (PMID: 7962538, 12406973). ClinVar contains an entry for this variant (Variation ID: 1484). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that disruption of the initiator codon affects HMBS function (PMID: 27539938). 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.
OMIM RCV000001549 SCV000021704 pathogenic Porphyria, acute intermittent, nonerythroid variant 1994-11-01 no assertion criteria provided literature only

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