ClinVar Miner

Submissions for variant NM_003383.5(VLDLR):c.2371G>A (p.Val791Ile)

gnomAD frequency: 0.00051  dbSNP: rs35334949
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503816 SCV000597858 uncertain significance not specified 2017-06-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001434527 SCV001637336 likely benign not provided 2024-12-02 criteria provided, single submitter clinical testing
GeneDx RCV001434527 SCV001753958 uncertain significance not provided 2022-09-15 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000503816 SCV005884222 likely benign not specified 2024-12-10 criteria provided, single submitter clinical testing Variant summary: VLDLR c.2371G>A (p.Val791Ile) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00011 in 251338 control chromosomes, predominantly at a frequency of 0.0015 within the African or African-American subpopulation in the gnomAD database. The observed variant frequency within African or African-American control individuals in the gnomAD database is approximately 1.34 fold of the estimated maximal expected allele frequency for a pathogenic variant in VLDLR causing Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 phenotype (0.0011). To our knowledge, no occurrence of c.2371G>A in individuals affected with Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 437225). Based on the evidence outlined above, the variant was classified as likely benign.

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