ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.1100T>C (p.Ile367Thr)

dbSNP: rs1555739020
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000527187 SCV000630828 pathogenic Walker-Warburg congenital muscular dystrophy 2023-07-27 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 367 of the FKRP protein (p.Ile367Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with a dystrophinopathy-like phenotype (PMID: 28112097; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 459227). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt FKRP protein function. For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV001093245 SCV001250136 pathogenic not provided 2018-05-01 criteria provided, single submitter clinical testing

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