ClinVar Miner

Submissions for variant NM_080669.6(SLC46A1):c.43C>T (p.Pro15Ser)

gnomAD frequency: 0.00004  dbSNP: rs781838735
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001998270 SCV002258911 uncertain significance not provided 2023-10-06 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 15 of the SLC46A1 protein (p.Pro15Ser). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs781838735, gnomAD 0.09%). This variant has not been reported in the literature in individuals affected with SLC46A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1477019). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224601 SCV003920487 uncertain significance Congenital defect of folate absorption 2022-10-04 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 0.007% (3/41472) including 1 homozygote (https://gnomad.broadinstitute.org/variant/17-28406072-G-A?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:1477019). Evolutionary conservation and computational predictive 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.
Breakthrough Genomics, Breakthrough Genomics RCV001998270 SCV005192782 uncertain significance not provided criteria provided, single submitter not provided

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