ClinVar Miner

Submissions for variant NM_007046.4(EMILIN1):c.263G>T (p.Gly88Val)

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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 RCV004624889 SCV005114693 uncertain significance Inborn genetic diseases 2024-05-07 criteria provided, single submitter clinical testing The c.263G>T (p.G88V) alteration is located in exon 2 (coding exon 2) of the EMILIN1 gene. This alteration results from a G to T substitution at nucleotide position 263, causing the glycine (G) at amino acid position 88 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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