ClinVar Miner

Submissions for variant NM_177550.5(SLC13A5):c.1395C>T (p.Asn465=)

gnomAD frequency: 0.00016  dbSNP: rs150722760
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440558 SCV000525900 likely benign not specified 2016-04-01 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000556028 SCV000655324 benign Developmental and epileptic encephalopathy, 25 2025-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002318447 SCV000851479 likely benign Inborn genetic diseases 2017-01-30 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.
Genome-Nilou Lab RCV000556028 SCV002055685 benign Developmental and epileptic encephalopathy, 25 2021-07-15 criteria provided, single submitter clinical testing

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