ClinVar Miner

Submissions for variant NM_033071.3(SYNE1):c.15897C>A (p.His5299Gln) (rs138277154)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521314 SCV000619984 uncertain significance not provided 2017-08-16 criteria provided, single submitter clinical testing The H5299Q variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The H5299Q variant is observed in 32/66,188 (0.05%) alleles from individuals of European background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, this substitution occurs at a position that is not conserved, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.
Illumina Clinical Services Laboratory,Illumina RCV000372270 SCV000461127 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000275947 SCV000461128 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing

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