ClinVar Miner

Submissions for variant NM_017654.4(SAMD9):c.4413G>A (p.Met1471Ile)

dbSNP: rs978197631
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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 RCV002141001 SCV002462089 likely benign not provided 2023-09-15 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224619 SCV003920407 uncertain significance Normophosphatemic familial tumoral calcinosis; MIRAGE syndrome; Monosomy 7 myelodysplasia and leukemia syndrome 2 2022-11-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF 0.001% [1/67958]; https://gnomad.broadinstitute.org/variant/7-93101685-C-T?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:1648073). Evolutionary conservation and computational prediction tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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