Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000153491 | SCV000203009 | uncertain significance | not provided | 2014-01-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000164028 | SCV000214633 | likely benign | Hereditary cancer-predisposing syndrome | 2018-09-10 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Labcorp Genetics |
RCV000198491 | SCV000254696 | likely benign | Renal cell carcinoma | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001333796 | SCV001526480 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 97 | 2018-05-14 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Gene |
RCV000153491 | SCV001772189 | uncertain significance | not provided | 2024-03-26 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 37316882, 27696107, 34882875) |
ARUP Laboratories, |
RCV000153491 | SCV002049877 | uncertain significance | not provided | 2023-10-23 | criteria provided, single submitter | clinical testing | The MET c.901A>G, p.Thr301Ala variant (rs201687037), to our knowledge, has not been reported in the medical literature; however, this variant is listed in the ClinVar database (Variation ID: 167292). This variant is found in the general population with an overall allele frequency of 0.03% (81/280,300 alleles) in the Genome Aggregation Database. The threonine at codon 301 is moderately conserved, and computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.243). Based on the available information, the clinical significance of this variant is uncertain. |
Center for Genomic Medicine, |
RCV002267890 | SCV002550774 | uncertain significance | not specified | 2024-07-31 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000153491 | SCV005622941 | uncertain significance | not provided | 2023-11-13 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV000153491 | SCV001553583 | uncertain significance | not provided | no assertion criteria provided | clinical testing | The MET p.T301A variant was identified in one individual with colon cancer (Rohlin_2017_PMID: 27696107). The variant was identified in dbSNP (ID: rs201687037), ClinVar (classified as uncertain significance by EGL Genetic Diagnostics and Invitae; and as likely benign by Ambry Genetics), and COSMIC (lung, prostate, endometrium). The variant was identified in control databases in 81 of 280300 chromosomes at a frequency of 0.0002890, and was observed at the highest frequency in the European (non-Finnish) population in 71 of 128168 chromosomes (freq: 0.0005540) (Genome Aggregation Database March 6, 2019, v2.1.1). The p.T301 residue is conserved in mammals and computational analyses (MUT Assesor, PolyPhen-2, SIFT, MutationTaster, Revel, FATHMM, MetaLR, DANN) provide inconsistent predictions regarding the impact to the protein; this information is not very predictive of pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (Splice AI exome) do not predict an impact on splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance. |