ClinVar Miner

Submissions for variant NM_006514.3(SCN10A):c.1661T>C (p.Leu554Pro) (rs138404783)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000438968 SCV000520919 likely benign not specified 2017-10-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000805966 SCV000945943 uncertain significance Brugada syndrome 2018-11-06 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 554 of the SCN10A protein (p.Leu554Pro). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and proline. This variant is present in population databases (rs138404783, ExAC 0.03%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has been observed in a family affected with neuropathy (PMID: 23115331). ClinVar contains an entry for this variant (Variation ID: 89014). Experimental studies have shown that this missense change alters sodium channel function (PMID: 23115331). 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000998049 SCV001153915 uncertain significance not provided 2016-07-01 criteria provided, single submitter clinical testing
OMIM RCV000074497 SCV000108582 pathogenic Episodic pain syndrome, familial, 2 2012-11-20 no assertion criteria provided literature only

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