ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.-1_2del (p.Met1del) (rs1180986256)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666220 SCV000790477 likely pathogenic Fukuyama congenital muscular dystrophy 2017-03-24 criteria provided, single submitter clinical testing
Invitae RCV001209576 SCV001381018 uncertain significance Walker-Warburg congenital muscular dystrophy 2019-07-09 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the FKTN mRNA. The next in-frame methionine is located at codon 63. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FKTN-related conditions. ClinVar contains an entry for this variant (Variation ID: 551221). Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of the affected amino acid(s) is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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