ClinVar Miner

Submissions for variant NM_138773.4(SLC25A46):c.767A>G (p.Lys256Arg)

gnomAD frequency: 0.00193  dbSNP: rs141213807
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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 RCV001450083 SCV000656081 likely benign Neuropathy, hereditary motor and sensory, type 6B 2024-01-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000762154 SCV000892418 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing SLC25A46: BS2
GeneDx RCV000762154 SCV001781985 likely benign not provided 2020-09-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32259769)
Ambry Genetics RCV002404560 SCV002669468 likely benign Inborn genetic diseases 2021-03-19 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.
PreventionGenetics, part of Exact Sciences RCV003935544 SCV004751523 likely benign SLC25A46-related disorder 2022-02-04 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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