ClinVar Miner

Submissions for variant NM_003383.5(VLDLR):c.1213A>C (p.Ile405Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002729895 SCV003729519 uncertain significance Inborn genetic diseases 2021-12-17 criteria provided, single submitter clinical testing The c.1213A>C (p.I405L) alteration is located in exon 9 (coding exon 9) of the VLDLR gene. This alteration results from a A to C substitution at nucleotide position 1213, causing the isoleucine (I) at amino acid position 405 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003140223 SCV003820407 uncertain significance Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 2021-11-05 criteria provided, single submitter clinical testing

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