Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001084287 | SCV000290180 | benign | Charcot-Marie-Tooth disease type 4 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
| Athena Diagnostics Inc | RCV000219297 | SCV000614130 | benign | not provided | 2019-04-10 | criteria provided, single submitter | clinical testing | |
| Illumina Clinical Services Laboratory, |
RCV001112850 | SCV001270554 | uncertain significance | Charcot-Marie-Tooth disease, type 4B1 | 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. |
| Molecular Genetics Laboratory, |
RCV001172718 | SCV001335784 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
| ARUP Laboratories, |
RCV001112850 | SCV001472296 | benign | Charcot-Marie-Tooth disease, type 4B1 | 2020-02-23 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000219297 | SCV000279113 | not provided | not provided | 2016-07-15 | no assertion provided | clinical testing | The S619P variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The NHLBI Exome Sequencing Project reports S619P was observed in 21/8596 (0.2%) alleles from individuals of European background. The 1000 Genomes Project reports S619P was observed in 17/978 (1.7%) alleles from individuals of South Asian background and in 6/206 (3.0%) alleles from individuals of Gujarati Indian background, indicating it may be a rare (benign) variant in these populations. The S619P variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to 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. |