ClinVar Miner

Submissions for variant NM_007046.4(EMILIN1):c.817G>A (p.Gly273Ser)

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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 RCV005334951 SCV005991220 uncertain significance Inborn genetic diseases 2025-02-19 criteria provided, single submitter clinical testing The c.817G>A (p.G273S) 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 817, causing the glycine (G) at amino acid position 273 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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