Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001058438 | SCV001223011 | uncertain significance | Myofibrillar myopathy 4 | 2023-01-30 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 853598). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This variant is present in population databases (rs772912790, gnomAD 0.003%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 94 of the LDB3 protein (p.Pro94Leu). |
Ambry Genetics | RCV002436629 | SCV002749504 | uncertain significance | Cardiovascular phenotype | 2023-12-19 | criteria provided, single submitter | clinical testing | The c.281C>T (p.P94L) alteration is located in exon 3 (coding exon 3) of the LDB3 gene. This alteration results from a C to T substitution at nucleotide position 281, causing the proline (P) at amino acid position 94 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV003130136 | SCV003816499 | uncertain significance | not provided | 2022-06-14 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003230629 | SCV003928321 | uncertain significance | not specified | 2023-04-17 | criteria provided, single submitter | clinical testing |