ClinVar Miner

Submissions for variant NM_007046.4(EMILIN1):c.1172C>T (p.Ala391Val)

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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 RCV004979742 SCV005575307 uncertain significance Inborn genetic diseases 2024-09-04 criteria provided, single submitter clinical testing The c.1172C>T (p.A391V) 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 1172, causing the alanine (A) at amino acid position 391 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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