ClinVar Miner

Submissions for variant NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu)

gnomAD frequency: 0.00251  dbSNP: rs57932685
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177125 SCV000228952 benign not specified 2015-01-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000177125 SCV000306944 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000177125 SCV000536311 uncertain significance not specified 2017-01-24 criteria provided, single submitter clinical testing The V71L variant has been previously reported as a benign polymorphism which showed stable expression of the protein similar to wild type expression (Valente et al., 2010). This variant is observed in 70/9798 (0.7%) alleles from individuals of African background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The V71L variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Valine are tolerated across species. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Additionally, missense variants in a nearby residue (R73C/H/L) have been reported in Human Gene Mutation Database in association with Joubert syndrome (Stenson et al., 2014). Based on the currently available information, it is unclear whether the V71L variant is a pathogenic variant or a rare benign variant.
Invitae RCV000533045 SCV000634558 likely benign Familial aplasia of the vermis 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279272 SCV001466355 likely benign Joubert syndrome 2 2020-07-17 no assertion criteria provided clinical testing

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