ClinVar Miner

Submissions for variant NM_007046.4(EMILIN1):c.3034G>C (p.Glu1012Gln)

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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 RCV004979747 SCV005575313 uncertain significance Inborn genetic diseases 2024-12-10 criteria provided, single submitter clinical testing The c.3034G>C (p.E1012Q) alteration is located in exon 8 (coding exon 8) of the EMILIN1 gene. This alteration results from a G to C substitution at nucleotide position 3034, causing the glutamic acid (E) at amino acid position 1012 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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