Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001048799 | SCV001212822 | benign | not provided | 2024-12-24 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004031526 | SCV002755022 | likely benign | not specified | 2023-10-27 | 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. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004031526 | SCV005204546 | likely benign | not specified | 2024-06-20 | criteria provided, single submitter | clinical testing | Variant summary: NEXMIF c.3460C>A (p.Pro1154Thr) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.7e-05 in 1209445 control chromosomes including 5 hemizygotes (gnomAD database v4). This frequency is not significantly higher than estimated for a pathogenic variant in NEXMIF causing Intellectual Developmental Disorder, X-Linked 98, allowing no conclusion about variant significance. To our knowledge, no occurrence of c.3460C>A in individuals affected with Intellectual Developmental Disorder, X-Linked 98 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 845686). Based on the evidence outlined above, the variant was classified as likely benign. |