ClinVar Miner

Submissions for variant NM_001122955.4(BSCL2):c.1031C>T (p.Ser344Phe)

gnomAD frequency: 0.00043  dbSNP: rs140676897
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192598 SCV000246825 uncertain significance not specified 2015-08-06 criteria provided, single submitter clinical testing
GeneDx RCV000766869 SCV000531667 uncertain significance not provided 2022-12-19 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
Labcorp Genetics (formerly Invitae), Labcorp RCV001083233 SCV000657783 likely benign Charcot-Marie-Tooth disease type 2 2024-10-22 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV001174400 SCV001337538 uncertain significance Monogenic diabetes 2017-11-10 criteria provided, single submitter research ACMG criteria: PP3 (6 predictors), BP4 (3 predictors), ClinVar calls VUS=VUS
New York Genome Center RCV002467651 SCV001431037 uncertain significance Severe neurodegenerative syndrome with lipodystrophy 2020-11-10 criteria provided, single submitter clinical testing The p.Ser344Phe variant has not been reported in affected individuals in the literature. The variant has 0.0001 allele frequency in the gnomAD database (29 out of 282,872 heterozygous alleles) indicating it is a rare allele in the general population. The affected residue is moderately conserved and different in silico tools show conflicting predictions about the potential pathogenicity of this variant.
Ambry Genetics RCV002433863 SCV002679791 uncertain significance Inborn genetic diseases 2022-01-07 criteria provided, single submitter clinical testing The p.S280F variant (also known as c.839C>T), located in coding exon 7 of the BSCL2 gene, results from a C to T substitution at nucleotide position 839. The serine at codon 280 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003884385 SCV004698139 uncertain risk allele Congenital generalized lipodystrophy type 2 criteria provided, single submitter research Potent mutations in BSCL2 gene are associated with Congenital generalized lipodystrophy, type 2, which can present with insulin resistance, fatty liver and diabetes.However, the role of this particular variant rs140676897 of Congenital Generalized Lipodystrophy type 2 remains uncertain
Fulgent Genetics, Fulgent Genetics RCV005049470 SCV005684446 likely benign Congenital generalized lipodystrophy type 2; Hereditary spastic paraplegia 17; Severe neurodegenerative syndrome with lipodystrophy; Neuronopathy, distal hereditary motor, type 5C 2024-06-24 criteria provided, single submitter clinical testing

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