ClinVar Miner

Submissions for variant NM_017654.4(SAMD9):c.4198C>T (p.Pro1400Ser)

dbSNP: rs1584251663
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000998839 SCV001155138 likely pathogenic not provided 2018-03-01 criteria provided, single submitter clinical testing
Invitae RCV000998839 SCV004372015 uncertain significance not provided 2023-01-16 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SAMD9 protein function. ClinVar contains an entry for this variant (Variation ID: 810129). This missense change has been observed in individual(s) with SAMD9-related conditions (PMID: 34958143). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1400 of the SAMD9 protein (p.Pro1400Ser).

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