ClinVar Miner

Submissions for variant NM_198586.3(NHLRC1):c.46A>G (p.Met16Val) (rs146636139)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000188197 SCV000614199 uncertain significance not specified 2016-09-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724005 SCV000224717 uncertain significance not provided 2018-04-09 criteria provided, single submitter clinical testing
GeneDx RCV000188197 SCV000241804 uncertain significance not specified 2016-05-02 criteria provided, single submitter clinical testing The M16V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The NHLBI Exome Sequencing Project and the 1000 Genomes Project report M16V was observed in 0.3-0.9% of alleles from individuals from African background. The M16V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Additionally, this substitution occurs at a position that is not conserved, and Valine has been seen at this position in evolution. Furthermore, in silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000228340 SCV000291888 likely benign Lafora disease 2017-11-23 criteria provided, single submitter clinical testing

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