ClinVar Miner

Submissions for variant NM_006731.2(FKTN):c.648-1243G>T (rs1554754182)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000587372 SCV000698718 likely pathogenic Fukuyama congenital muscular dystrophy 2016-01-26 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763612 SCV000894463 likely pathogenic Dilated cardiomyopathy 1X; Fukuyama congenital muscular dystrophy; Limb-girdle muscular dystrophy-dystroglycanopathy, type C4; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1; Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001217950 SCV001389813 pathogenic Walker-Warburg congenital muscular dystrophy 2019-07-15 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the FKTN gene. It does not directly change the encoded amino acid sequence of the FKTN 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 ExAC database. This variant has been observed on the opposite chromosome (in trans) from or in combination with a pathogenic variant in individuals affected with congenital muscular dystrophy (PMID: 20620061, 28680109). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. This variant is also known as c.647+2084G>T in the literature. ClinVar contains an entry for this variant (Variation ID: 496331). Experimental studies have shown that this variant leads to aberrant splicing (PMID: 20620061, 28680109). For these reasons, this variant has been classified as Pathogenic.

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