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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