ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.694C>T (p.Pro232Ser)

dbSNP: rs1034968484
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732552 SCV000860520 uncertain significance not provided 2018-04-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002360857 SCV002663656 uncertain significance Cardiovascular phenotype 2021-09-16 criteria provided, single submitter clinical testing The p.P232S variant (also known as c.694C>T), located in coding exon 5 of the FKTN gene, results from a C to T substitution at nucleotide position 694. The proline at codon 232 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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