ClinVar Miner

Submissions for variant NM_007046.4(EMILIN1):c.164G>A (p.Arg55His)

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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 RCV004979743 SCV005575308 uncertain significance Inborn genetic diseases 2024-07-02 criteria provided, single submitter clinical testing The c.164G>A (p.R55H) alteration is located in exon 1 (coding exon 1) of the EMILIN1 gene. This alteration results from a G to A substitution at nucleotide position 164, causing the arginine (R) at amino acid position 55 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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