ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.402C>A (p.Ser134Arg) (rs201241092)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000237054 SCV000294148 uncertain significance not provided 2016-04-20 criteria provided, single submitter clinical testing The S134R variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The S134R variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, but the 1000 Genomes Project reports it was observed in 3/208 (1.4%) alleles from individuals of Puerto Rican background, indicating it may be a rare (benign) variant in this population. The S134R variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals; however, Arginine is observed at this position in evolution. 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.
Illumina Clinical Services Laboratory,Illumina RCV000286168 SCV000376158 likely benign Scapuloperoneal spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323886 SCV000376159 likely benign Brachyolmia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000376123 SCV000376160 likely benign Distal spinal muscular atrophy, congenital nonprogressive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000283921 SCV000376161 likely benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000336637 SCV000376162 likely benign Metatrophic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000401941 SCV000376163 likely benign Spondylometaphyseal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000462318 SCV000549253 benign Charcot-Marie-Tooth disease type 2C 2017-11-13 criteria provided, single submitter clinical testing

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