ClinVar Miner

Submissions for variant NM_017553.3(INO80):c.2998C>T (p.Arg1000Cys)

gnomAD frequency: 0.00053  dbSNP: rs149600837
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001701654 SCV001474306 uncertain significance not provided 2020-07-02 criteria provided, single submitter clinical testing The INO80 c.2998C>T; p.Arg1000Cys variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the non-Finnish European population with an allele frequency of 0.06 % (80/129,052 alleles) in the Genome Aggregation Database. The arginine at codon 1000 is weakly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Arg1000Cys variant is uncertain at this time.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701654 SCV001932849 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001701654 SCV001974827 likely benign not provided no assertion criteria provided clinical testing

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