Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000925859 | SCV001071413 | likely benign | not provided | 2024-12-02 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000925859 | SCV001789681 | uncertain significance | not provided | 2024-09-23 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
| Ambry Genetics | RCV002541529 | SCV003683993 | likely benign | Inborn genetic diseases | 2021-09-16 | 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, |
RCV003235434 | SCV003933729 | likely benign | not specified | 2023-05-04 | criteria provided, single submitter | clinical testing | Variant summary: MPDZ c.4421A>T (p.Asp1474Val) 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 0.00019 in 241802 control chromosomes, predominantly at a frequency of 0.003 within the African or African-American subpopulation in the gnomAD database. To our knowledge, no occurrence of c.4421A>T in individuals affected with Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 and no experimental evidence demonstrating its impact on protein function have been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as either likely benign (n=2) or VUS (n=1). Based on the evidence outlined above, the variant was classified as likely benign. |