ClinVar Miner

Submissions for variant NM_138773.4(SLC25A46):c.278G>A (p.Ser93Asn)

gnomAD frequency: 0.00170  dbSNP: rs73230112
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000877080 SCV001019753 likely benign Neuropathy, hereditary motor and sensory, type 6B 2023-12-19 criteria provided, single submitter clinical testing
GeneDx RCV001561943 SCV001784634 likely benign not provided 2021-02-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002434162 SCV002747324 likely benign Inborn genetic diseases 2020-08-08 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.
PreventionGenetics, part of Exact Sciences RCV003948252 SCV004761449 likely benign SLC25A46-related disorder 2023-05-22 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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