ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.41C>T (p.Thr14Met)

gnomAD frequency: 0.00019  dbSNP: rs149033995
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079435 SCV000111314 uncertain significance not provided 2018-07-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000634064 SCV000755342 likely benign Walker-Warburg congenital muscular dystrophy 2025-01-07 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000079435 SCV001716025 uncertain significance not provided 2019-04-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504991 SCV002815426 uncertain significance Dilated cardiomyopathy 1X; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; Autosomal recessive limb-girdle muscular dystrophy type 2M; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 2021-11-04 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000079435 SCV003832672 uncertain significance not provided 2020-08-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004019537 SCV004871083 uncertain significance Cardiovascular phenotype 2024-04-29 criteria provided, single submitter clinical testing The c.41C>T (p.T14M) alteration is located in exon 3 (coding exon 1) of the FKTN gene. This alteration results from a C to T substitution at nucleotide position 41, causing the threonine (T) at amino acid position 14 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV000079435 SCV005195512 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV000634064 SCV002078736 uncertain significance Walker-Warburg congenital muscular dystrophy 2020-02-21 no assertion criteria provided clinical testing

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