ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.523A>G (p.Thr175Ala) (rs146304351)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516838 SCV000615860 uncertain significance not specified 2017-04-13 criteria provided, single submitter clinical testing
Invitae RCV000684901 SCV000812362 uncertain significance Charcot-Marie-Tooth disease axonal type 2C 2019-10-31 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 175 of the TRPV4 protein (p.Thr175Ala). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and alanine. This variant is present in population databases (rs146304351, ExAC 0.009%). This variant has not been reported in the literature in individuals with TRPV4-related disease. Experimental studies have shown that this missense change disrupts TRPV4 protein function in vitro (PMID: 19661060). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000994976 SCV001148823 uncertain significance not provided 2019-06-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001112861 SCV001270565 uncertain significance Brachyrachia (short spine dysplasia) 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001114213 SCV001272064 uncertain significance Scapuloperoneal spinal muscular atrophy 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001114214 SCV001272065 uncertain significance Metatrophic dysplasia 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV000684901 SCV001272066 uncertain significance Charcot-Marie-Tooth disease axonal type 2C 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001114215 SCV001272067 uncertain significance Distal spinal muscular atrophy, congenital nonprogressive 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001114216 SCV001272068 likely benign Spondylometaphyseal dysplasia, Kozlowski type 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173247 SCV001336330 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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