ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.851G>A (p.Arg284His) (rs151309813)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080486 SCV000552354 benign Tuberous sclerosis 1 2020-11-27 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000034612 SCV001146271 benign not provided 2018-10-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV001017939 SCV001179108 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-23 criteria provided, single submitter clinical testing The p.R284H variant (also known as c.851G>A), located in coding exon 7 of the TSC1 gene, results from a G to A substitution at nucleotide position 851. The arginine at codon 284 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034612 SCV000043520 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.

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