ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.59A>C (p.His20Pro) (rs104895295)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001093432 SCV001250409 pathogenic not provided 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV001240497 SCV001413447 pathogenic Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2019-10-09 criteria provided, single submitter clinical testing This sequence change replaces histidine with proline at codon 20 of the MVK protein (p.His20Pro). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with autosomal recessive mevalonate kinase deficiency (PMID: 10369261, 16835861, 10896296). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 11931). This variant has been reported to affect MVK protein function (PMID: 10369261). This variant disrupts the p.His20 amino acid residue in MVK. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 15536479, 27213830, 11313769, 27213830, 28501347). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000012707 SCV000032942 pathogenic Hyperimmunoglobulin D with periodic fever 1999-08-01 no assertion criteria provided literature only
OMIM RCV000012708 SCV000032943 pathogenic Mevalonic aciduria 1999-08-01 no assertion criteria provided literature only
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000012707 SCV000115955 not provided Hyperimmunoglobulin D with periodic fever no assertion provided not provided

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