ClinVar Miner

Submissions for variant NM_007046.4(EMILIN1):c.1262C>T (p.Ser421Leu)

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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 RCV004624890 SCV005114694 uncertain significance Inborn genetic diseases 2024-03-19 criteria provided, single submitter clinical testing The c.1262C>T (p.S421L) 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 1262, causing the serine (S) at amino acid position 421 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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