ClinVar Miner

Submissions for variant NM_001122955.4(BSCL2):c.1147G>A (p.Gly383Arg)

gnomAD frequency: 0.00006  dbSNP: rs772516974
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000533481 SCV000657787 uncertain significance Charcot-Marie-Tooth disease type 2 2025-01-14 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 319 of the BSCL2 protein (p.Gly319Arg). This variant is present in population databases (rs772516974, gnomAD 0.009%). 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: 476819). 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 BSCL2 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001508668 SCV001714979 uncertain significance not provided 2019-04-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002377176 SCV002691956 uncertain significance Inborn genetic diseases 2024-07-02 criteria provided, single submitter clinical testing The c.955G>A (p.G319R) alteration is located in exon 9 (coding exon 8) of the BSCL2 gene. This alteration results from a G to A substitution at nucleotide position 955, causing the glycine (G) at amino acid position 319 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002483492 SCV002781368 uncertain significance Congenital generalized lipodystrophy type 2; Hereditary spastic paraplegia 17; Severe neurodegenerative syndrome with lipodystrophy; Neuronopathy, distal hereditary motor, type 5C 2024-02-09 criteria provided, single submitter clinical testing

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