ClinVar Miner

Submissions for variant NM_017654.4(SAMD9):c.29del (p.Asn10fs)

dbSNP: rs1356051307
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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 RCV002004398 SCV002293254 uncertain significance not provided 2022-10-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn10Ilefs*10) in the SAMD9 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1580 amino acid(s) of the SAMD9 protein. This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with SAMD9-related conditions. ClinVar contains an entry for this variant (Variation ID: 1506133). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002486662 SCV002780149 uncertain significance Normophosphatemic familial tumoral calcinosis; MIRAGE syndrome; Monosomy 7 myelodysplasia and leukemia syndrome 2 2021-07-16 criteria provided, single submitter clinical testing

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