ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.948del (p.Cys317fs)

dbSNP: rs748798133
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000822337 SCV000963135 pathogenic Walker-Warburg congenital muscular dystrophy 2023-12-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys317Alafs*111) in the FKRP gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 179 amino acid(s) of the FKRP protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with limb girdle muscular dystrophy (PMID: 23800702, 27439679, 28931339). 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: 664273). This variant disrupts the p.Ala455 amino acid residue in FKRP. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 14652796, 15574464, 16368217, 18671187, 19955119, 23420653, 23894383). 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.
Genome-Nilou Lab RCV001580551 SCV001810426 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 2021-07-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV001784454 SCV002023719 pathogenic not provided 2019-12-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507441 SCV002810924 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 2022-01-13 criteria provided, single submitter clinical testing
GeneDx RCV001784454 SCV003837152 pathogenic not provided 2023-02-09 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation, as the last 179 amino acids are replaced with 110 different amino acids, and other loss-of-function variants have been reported downstream in HGMD; This variant is associated with the following publications: (PMID: 30107846, 30003095, 28931339, 27439679, 17055682, 23800702, 21296577, 32576226, 33200426)
Baylor Genetics RCV001580551 SCV004197407 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 2023-09-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830816 SCV002091324 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I 2020-07-21 no assertion criteria provided clinical testing

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