ClinVar Miner

Submissions for variant NM_005857.5(ZMPSTE24):c.260C>T (p.Thr87Ile)

gnomAD frequency: 0.00004  dbSNP: rs372440430
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002029358 SCV002302241 uncertain significance not provided 2022-07-17 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 87 of the ZMPSTE24 protein (p.Thr87Ile). This variant is present in population databases (rs372440430, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ZMPSTE24-related conditions. ClinVar contains an entry for this variant (Variation ID: 1514530). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002486715 SCV002790428 uncertain significance Lethal tight skin contracture syndrome; Mandibuloacral dysplasia with type B lipodystrophy 2021-09-03 criteria provided, single submitter clinical testing

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