Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000177065 | SCV000228883 | uncertain significance | not provided | 2014-10-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000177065 | SCV004507375 | uncertain significance | not provided | 2023-05-30 | 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 196271). This variant has not been reported in the literature in individuals affected with PAFAH1B1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 38 of the PAFAH1B1 protein (p.Asp38Asn). |