ClinVar Miner

Submissions for variant NM_007046.4(EMILIN1):c.1828C>T (p.Arg610Trp)

gnomAD frequency: 0.00007  dbSNP: rs553403745
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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 RCV002739159 SCV003742043 uncertain significance Inborn genetic diseases 2022-06-10 criteria provided, single submitter clinical testing The c.1828C>T (p.R610W) alteration is located in exon 4 (coding exon 4) of the EMILIN1 gene. This alteration results from a C to T substitution at nucleotide position 1828, causing the arginine (R) at amino acid position 610 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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