ClinVar Miner

Submissions for variant NM_001122955.4(BSCL2):c.443T>C (p.Phe148Ser)

gnomAD frequency: 0.00003  dbSNP: rs751277966
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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 RCV001909353 SCV002186836 uncertain significance Charcot-Marie-Tooth disease type 2 2023-08-30 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt BSCL2 protein function. This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 84 of the BSCL2 protein (p.Phe84Ser). This variant is present in population databases (rs751277966, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with BSCL2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1407816). 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 RCV002503564 SCV002791033 uncertain significance Congenital generalized lipodystrophy type 2; Hereditary spastic paraplegia 17; Severe neurodegenerative syndrome with lipodystrophy; Neuronopathy, distal hereditary motor, type 5C 2022-03-03 criteria provided, single submitter clinical testing
GeneDx RCV004820218 SCV005441158 uncertain significance not provided 2024-06-21 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

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