ClinVar Miner

Submissions for variant NM_145167.3(PIGM):c.412A>G (p.Met138Val)

gnomAD frequency: 0.00001  dbSNP: rs773106649
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001323356 SCV001514268 uncertain significance Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency 2021-08-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035098 SCV005004530 uncertain significance not specified 2024-01-19 criteria provided, single submitter clinical testing The c.412A>G (p.M138V) alteration is located in exon 1 (coding exon 1) of the PIGM gene. This alteration results from a A to G substitution at nucleotide position 412, causing the methionine (M) at amino acid position 138 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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