ClinVar Miner

Submissions for variant NM_000190.4(HMBS):c.186G>C (p.Lys62Asn)

dbSNP: rs1402435019
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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 RCV001214092 SCV001385756 uncertain significance not provided 2019-09-15 criteria provided, single submitter clinical testing This sequence change replaces lysine with asparagine at codon 62 of the HMBS protein (p.Lys62Asn). The lysine residue is moderately conserved and there is a moderate physicochemical difference between lysine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with clinical features of porphyria (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
Institute of Human Genetics, University of Leipzig Medical Center RCV001253215 SCV001428823 uncertain significance Acute intermittent porphyria 2019-03-29 criteria provided, single submitter clinical testing

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