ClinVar Miner

Submissions for variant NM_003007.5(SEMG1):c.755A>G (p.Asp252Gly)

dbSNP: rs746230945
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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 RCV004450776 SCV004946426 uncertain significance not specified 2023-12-07 criteria provided, single submitter clinical testing The c.755A>G (p.D252G) alteration is located in exon 2 (coding exon 2) of the SEMG1 gene. This alteration results from a A to G substitution at nucleotide position 755, causing the aspartic acid (D) at amino acid position 252 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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