ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.165+5G>A

dbSNP: rs2132596368
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001806382 SCV002053940 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 criteria provided, single submitter research
Neuberg Centre For Genomic Medicine, NCGM RCV003339749 SCV004047143 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2M criteria provided, single submitter clinical testing The splice region variant c.165+5G>A in FKTN (NM_001079802.2) has been reported to ClinVar as Likely Pathogenic but no details are available for independent assessment. The c.165+5G>A variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The nucleotide c.165+5G>A in FKTN is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance (VUS).

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