ClinVar Miner

Submissions for variant NM_007046.4(EMILIN1):c.2330A>G (p.Glu777Gly)

dbSNP: rs2465597240
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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 RCV003295437 SCV003993501 uncertain significance Inborn genetic diseases 2023-06-06 criteria provided, single submitter clinical testing The c.2330A>G (p.E777G) alteration is located in exon 4 (coding exon 4) of the EMILIN1 gene. This alteration results from a A to G substitution at nucleotide position 2330, causing the glutamic acid (E) at amino acid position 777 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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