ClinVar Miner

Submissions for variant NM_177550.5(SLC13A5):c.1095C>G (p.Thr365=)

gnomAD frequency: 0.00030  dbSNP: rs139660928
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704450 SCV000530262 likely benign not provided 2021-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000652333 SCV000774202 likely benign Developmental and epileptic encephalopathy, 25 2024-11-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002318475 SCV000851629 likely benign Inborn genetic diseases 2017-04-04 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.

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