ClinVar Miner

Submissions for variant NM_007046.4(EMILIN1):c.2342G>A (p.Gly781Glu)

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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 RCV005334946 SCV005991215 uncertain significance Inborn genetic diseases 2024-12-16 criteria provided, single submitter clinical testing The c.2342G>A (p.G781E) 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 2342, causing the glycine (G) at amino acid position 781 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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