ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.423C>T (p.Leu141=)

gnomAD frequency: 0.00001  dbSNP: rs761417163
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734091 SCV000862203 uncertain significance not provided 2018-06-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002332534 SCV002632847 likely benign Inborn genetic diseases 2018-03-07 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003768241 SCV004624178 likely benign Progressive sclerosing poliodystrophy 2023-07-07 criteria provided, single submitter clinical testing

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