ClinVar Miner

Submissions for variant NM_003919.3(SGCE):c.551T>C (p.Leu184Pro)

dbSNP: rs1064794321
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000713250 SCV000568808 likely pathogenic not provided 2025-03-11 criteria provided, single submitter clinical testing Identified in patients with myoclonus-dystonia syndrome; however, in vitro functional studies were not included (PMID: 18175340, 18355305); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 19117361, 21796726, 18355305, 11022010, 33200041, 18175340, 10716258)
Labcorp Genetics (formerly Invitae), Labcorp RCV000639695 SCV000761276 pathogenic Myoclonic dystonia 11 2024-01-02 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 184 of the SGCE protein (p.Leu184Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with myoclonus-dystonia (PMID: 11022010, 18175340, 18355305; Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 420156). 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 SGCE protein function with a negative predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
Athena Diagnostics RCV000713250 SCV000843838 likely pathogenic not provided 2021-09-10 criteria provided, single submitter clinical testing This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant appears to segregate with disease in at least one family.
Baylor Genetics RCV000639695 SCV003835153 likely pathogenic Myoclonic dystonia 11 2024-03-12 criteria provided, single submitter clinical testing

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