ClinVar Miner

Submissions for variant NM_003383.5(VLDLR):c.311G>T (p.Ser104Ile)

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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 RCV002854209 SCV003619035 uncertain significance Inborn genetic diseases 2022-05-18 criteria provided, single submitter clinical testing The c.311G>T (p.S104I) alteration is located in exon 3 (coding exon 3) of the VLDLR gene. This alteration results from a G to T substitution at nucleotide position 311, causing the serine (S) at amino acid position 104 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003485827 SCV004237521 uncertain significance Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 2023-10-31 criteria provided, single submitter clinical testing

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