ClinVar Miner

Submissions for variant NM_003105.6(SORL1):c.5023C>T (p.Pro1675Ser)

gnomAD frequency: 0.00010  dbSNP: rs200758028
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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 RCV001579537 SCV002313506 uncertain significance not provided 2022-09-09 criteria provided, single submitter clinical testing This variant is present in population databases (rs200758028, gnomAD 0.01%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1675 of the SORL1 protein (p.Pro1675Ser). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1209939). This variant has not been reported in the literature in individuals affected with SORL1-related conditions.
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579537 SCV001807608 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579537 SCV001964528 likely benign not provided no assertion criteria provided clinical testing

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