ClinVar Miner

Submissions for variant NM_003007.5(SEMG1):c.490G>A (p.Glu164Lys)

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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 RCV004863925 SCV005496772 uncertain significance not specified 2024-08-04 criteria provided, single submitter clinical testing The c.490G>A (p.E164K) alteration is located in exon 2 (coding exon 2) of the SEMG1 gene. This alteration results from a G to A substitution at nucleotide position 490, causing the glutamic acid (E) at amino acid position 164 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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