ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.1012G>T (p.Val338Leu)

dbSNP: rs1173430388
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669472 SCV000794229 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2I 2017-09-20 criteria provided, single submitter clinical testing
Invitae RCV001868232 SCV002290521 pathogenic Walker-Warburg congenital muscular dystrophy 2023-12-20 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 338 of the FKRP protein (p.Val338Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with congenital muscular dystrophy and/or limb girdle muscular dystrophy (PMID: 20623375, 27671536, 33051673). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 553930). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on FKRP protein function. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV003488793 SCV004238188 likely pathogenic not provided 2023-02-20 criteria provided, single submitter clinical testing

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