ClinVar Miner

Submissions for variant NM_021815.5(SLC5A7):c.1643G>A (p.Arg548Gln)

gnomAD frequency: 0.00009  dbSNP: rs199864231
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000639722 SCV000761303 uncertain significance Neuronopathy, distal hereditary motor, type 7A; Congenital myasthenic syndrome 20 2025-02-02 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 548 of the SLC5A7 protein (p.Arg548Gln). This variant is present in population databases (rs199864231, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with SLC5A7-related conditions. ClinVar contains an entry for this variant (Variation ID: 532814). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Fulgent Genetics, Fulgent Genetics RCV000639722 SCV000896798 uncertain significance Neuronopathy, distal hereditary motor, type 7A; Congenital myasthenic syndrome 20 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002404792 SCV002709243 likely benign Inborn genetic diseases 2019-12-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV003437351 SCV004148956 uncertain significance not provided 2022-09-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003437351 SCV005412860 uncertain significance not provided 2023-10-05 criteria provided, single submitter clinical testing

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