ClinVar Miner

Submissions for variant NM_007046.4(EMILIN1):c.434G>A (p.Arg145Gln)

gnomAD frequency: 0.00001  dbSNP: rs564957235
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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 RCV003271321 SCV003974575 uncertain significance Inborn genetic diseases 2023-04-13 criteria provided, single submitter clinical testing The c.434G>A (p.R145Q) alteration is located in exon 3 (coding exon 3) of the EMILIN1 gene. This alteration results from a G to A substitution at nucleotide position 434, causing the arginine (R) at amino acid position 145 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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