ClinVar Miner

Submissions for variant NM_007046.4(EMILIN1):c.2447C>A (p.Ala816Glu)

gnomAD frequency: 0.00001  dbSNP: rs747523819
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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 RCV002799788 SCV003597819 uncertain significance Inborn genetic diseases 2022-01-19 criteria provided, single submitter clinical testing The c.2447C>A (p.A816E) alteration is located in exon 5 (coding exon 5) of the EMILIN1 gene. This alteration results from a C to A substitution at nucleotide position 2447, causing the alanine (A) at amino acid position 816 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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