ClinVar Miner

Submissions for variant NM_001048166.1(STIL):c.3010A>G (p.Arg1004Gly)

gnomAD frequency: 0.00003  dbSNP: rs370465985
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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 RCV000210584 SCV000263023 uncertain significance Inborn genetic diseases 2018-03-15 criteria provided, single submitter clinical testing The p.R1003G variant (also known as c.3007A>G), located in coding exon 15 of the STIL gene, results from an A to G substitution at nucleotide position 3007. The arginine at codon 1003 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. 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.
GeneDx RCV003332143 SCV004039802 uncertain significance not provided 2023-03-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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; This variant is associated with the following publications: (PMID: 31589614)

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