ClinVar Miner

Submissions for variant NM_005857.5(ZMPSTE24):c.1312C>T (p.Leu438Phe)

gnomAD frequency: 0.00010  dbSNP: rs116771294
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000128731 SCV003271524 uncertain significance not provided 2021-09-17 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 438 of the ZMPSTE24 protein (p.Leu438Phe). The leucine residue conservation data is unavailable and there is a small physicochemical difference between leucine and phenylalanine. This variant is present in population databases (rs116771294, ExAC 0.1%). This variant has been observed in individual(s) with Mandibuloacral dysplasia with lipodystrophy (PMID: 1724554, 32041611). ClinVar contains an entry for this variant (Variation ID: 140518). 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: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). Experimental studies have shown that this variant affects ZMPSTE24 protein function (PMID: 22718200, 29794150). 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.
ZMPSTE24 homepage - Leiden Muscular Dystrophy pages RCV000128731 SCV000172371 not provided not provided no assertion provided not provided

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