ClinVar Miner

Submissions for variant NM_007046.4(EMILIN1):c.910G>A (p.Val304Met)

gnomAD frequency: 0.00008  dbSNP: rs757827761
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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 RCV002744748 SCV003753553 uncertain significance Inborn genetic diseases 2025-02-24 criteria provided, single submitter clinical testing The c.910G>A (p.V304M) alteration is located in exon 4 (coding exon 4) of the EMILIN1 gene. This alteration results from a G to A substitution at nucleotide position 910, causing the valine (V) at amino acid position 304 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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