ClinVar Miner

Submissions for variant NM_007046.4(EMILIN1):c.1006C>T (p.Arg336Trp)

gnomAD frequency: 0.00001  dbSNP: rs779526140
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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 RCV003210818 SCV003907444 uncertain significance Inborn genetic diseases 2023-02-22 criteria provided, single submitter clinical testing The c.1006C>T (p.R336W) 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 1006, causing the arginine (R) at amino acid position 336 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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