ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.970G>T (p.Glu324Ter) (rs886044183)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726333 SCV000343843 pathogenic not provided 2016-07-15 criteria provided, single submitter clinical testing
Invitae RCV000461986 SCV000548520 likely pathogenic Walker-Warburg congenital muscular dystrophy 2019-06-05 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the last exon of the FKRP mRNA at codon 324 (p.Glu324*). While this is not anticipated to result in nonsense mediated decay, it is expected to create a truncated FKRP protein. While this variant is absent from population databases the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in an individual with a FKRP-related disease. A different truncating mutation, p.Ser385*, which is downstream of this variant at codon 324 has been reported as pathogenic in a family with patients affected with congenital muscular dystrophy (PMID: 11592034). In addition, a missense substitution, p.Ala455Asp, which is downstream of this codon 324 variant has been reported to be deleterious in patients affected with congenital muscular dystrophy (PMID: 14652796, 22908982, 15574464). These data indicate that the integrity of protein sequences downstream of codon 324 is important for FKRP protein function. For these reasons, this variant has been classified as Likely Pathogenic.
Counsyl RCV000282481 SCV000800100 likely pathogenic Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 2018-05-22 criteria provided, single submitter clinical testing

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