ClinVar Miner

Submissions for variant NM_018389.5(SLC35C1):c.767G>A (p.Arg256His)

gnomAD frequency: 0.00064  dbSNP: rs751906696
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000814387 SCV000954795 uncertain significance Leukocyte adhesion deficiency type II 2025-01-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 256 of the SLC35C1 protein (p.Arg256His). This variant is present in population databases (rs751906696, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with SLC35C1-related conditions. ClinVar contains an entry for this variant (Variation ID: 657718). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt SLC35C1 protein function with a negative predictive value of 80%. 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.
Fulgent Genetics, Fulgent Genetics RCV000814387 SCV002814363 uncertain significance Leukocyte adhesion deficiency type II 2021-07-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002538192 SCV003713524 likely benign Inborn genetic diseases 2021-09-15 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.

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