ClinVar Miner

Submissions for variant NM_003007.5(SEMG1):c.395G>A (p.Gly132Glu)

dbSNP: rs752629107
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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 RCV004154378 SCV003627108 uncertain significance not specified 2022-07-19 criteria provided, single submitter clinical testing The c.395G>A (p.G132E) 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 395, causing the glycine (G) at amino acid position 132 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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