ClinVar Miner

Submissions for variant NM_007046.4(EMILIN1):c.2354G>A (p.Gly785Asp)

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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 RCV005334940 SCV005991209 uncertain significance Inborn genetic diseases 2025-01-19 criteria provided, single submitter clinical testing The c.2354G>A (p.G785D) 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 2354, causing the glycine (G) at amino acid position 785 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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