ClinVar Miner

Submissions for variant NM_007046.4(EMILIN1):c.875G>A (p.Arg292Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004624885 SCV005114688 uncertain significance Inborn genetic diseases 2024-03-18 criteria provided, single submitter clinical testing The c.875G>A (p.R292Q) alteration is located in exon 4 (coding exon 4) of the EMILIN1 gene. This alteration results from a G to A substitution at nucleotide position 875, causing the arginine (R) at amino acid position 292 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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