ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.442_443del (p.Asp148fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002308094 SCV002601783 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; Autosomal recessive limb-girdle muscular dystrophy type 2M; Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 2022-03-05 criteria provided, single submitter clinical testing NM_001079802.1(FKTN):c.442_443delGA(D148Rfs*9) is expected to be pathogenic in the context of FKTN-related disorders. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in FKTN, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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