Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000427227 | SCV000521871 | likely benign | not specified | 2017-12-26 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Molecular Genetics Laboratory, |
RCV001174280 | SCV001337410 | benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Labcorp Genetics |
RCV002230250 | SCV002509678 | benign | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency; Charcot-Marie-Tooth disease axonal type 2U | 2025-01-29 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001702451 | SCV004564714 | benign | not provided | 2024-11-19 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000427227 | SCV006070807 | benign | not specified | 2025-03-03 | criteria provided, single submitter | clinical testing | Variant summary: MARS1 c.2204+11G>A alters a non-conserved nucleotide located at a position not widely known to affect splicing. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.0037 in 1614082 control chromosomes in the gnomAD database, including 22 homozygotes. The observed variant frequency is approximately 3-fold of the estimated maximal expected allele frequency for a pathogenic variant in MARS1 causing Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency phenotype (0.0011). To our knowledge, no occurrence of c.2204+11G>A in individuals affected with Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 382084). Based on the evidence outlined above, the variant was classified as benign. |
Clinical Genetics, |
RCV000427227 | SCV001921071 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001702451 | SCV001931006 | likely benign | not provided | no assertion criteria provided | clinical testing |