ClinVar Miner

Submissions for variant NM_007046.4(EMILIN1):c.481G>T (p.Gly161Cys)

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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 RCV004979749 SCV005575315 uncertain significance Inborn genetic diseases 2024-07-05 criteria provided, single submitter clinical testing The c.481G>T (p.G161C) alteration is located in exon 3 (coding exon 3) of the EMILIN1 gene. This alteration results from a G to T substitution at nucleotide position 481, causing the glycine (G) at amino acid position 161 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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