Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000513389 | SCV000609103 | uncertain significance | not provided | 2017-06-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000553199 | SCV000651572 | uncertain significance | Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome | 2022-10-24 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1793 of the LAMB2 protein (p.Ile1793Met). This variant is present in population databases (rs11550620, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with LAMB2-related conditions. ClinVar contains an entry for this variant (Variation ID: 444602). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |
Baylor Genetics | RCV001335016 | SCV001528045 | uncertain significance | LAMB2-related infantile-onset nephrotic syndrome | 2018-12-18 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Fulgent Genetics, |
RCV000553199 | SCV002814510 | uncertain significance | Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome | 2022-03-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002524965 | SCV003701359 | uncertain significance | Inborn genetic diseases | 2022-08-08 | criteria provided, single submitter | clinical testing | The c.5379C>G (p.I1793M) alteration is located in exon 32 (coding exon 32) of the LAMB2 gene. This alteration results from a C to G substitution at nucleotide position 5379, causing the isoleucine (I) at amino acid position 1793 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |