ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.584G>A (p.Arg195Gln) (rs143078257)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000268930 SCV000369969 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307649 SCV000369970 uncertain significance Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000732256 SCV000620409 uncertain significance not provided 2017-08-28 criteria provided, single submitter clinical testing The R195Q variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R195Q variant is observed in 8/66,636 (0.01%) alleles from individuals of European background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position where amino acids with similar properties to Arginine are tolerated across species. However, this variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. Additionally, in silico analysis predicts this variant is probably damaging to the protein structure/function.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000732256 SCV000860181 uncertain significance not provided 2018-03-13 criteria provided, single submitter clinical testing

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