ClinVar Miner

Submissions for variant NM_013335.4(GMPPA):c.1053C>G (p.Ala351=)

gnomAD frequency: 0.11761  dbSNP: rs1046474
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424882 SCV000517706 benign not specified 2015-12-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001510961 SCV001718128 benign Alacrima, achalasia, and intellectual disability syndrome 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001510961 SCV001933851 benign Alacrima, achalasia, and intellectual disability syndrome 2021-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709983 SCV005240390 benign not provided criteria provided, single submitter not provided

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