ClinVar Miner

Submissions for variant NM_006998.4(SCGN):c.6C>A (p.Asp2Glu)

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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 RCV005268013 SCV005933167 uncertain significance not specified 2024-12-12 criteria provided, single submitter clinical testing The c.6C>A (p.D2E) alteration is located in exon 1 (coding exon 1) of the SCGN gene. This alteration results from a C to A substitution at nucleotide position 6, causing the aspartic acid (D) at amino acid position 2 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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