Total submissions: 10
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. |
Ce |
RCV000994976 | SCV001148823 | uncertain significance | not provided | 2019-06-01 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
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, |
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, |
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, |
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, |
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, |
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, |
RCV001173247 | SCV001336330 | uncertain significance | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing |