ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.4807G>A (p.Glu1603Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003337715 SCV004047929 uncertain significance Arthrogryposis multiplex congenita 3, myogenic type criteria provided, single submitter clinical testing The missense variant in c.4807G>A(p.Glu1603Lys) in SYNE1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Glu1603Lys variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. The amino acid Glu at position 1603 is changed to a Lys changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Uncertain Significance (VUS).

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