ClinVar Miner

Submissions for variant NM_032861.4(SERAC1):c.440C>T (p.Thr147Met)

gnomAD frequency: 0.00411  dbSNP: rs114443105
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000610930 SCV000729053 benign not specified 2017-03-15 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 RCV000861165 SCV001001403 benign 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2024-01-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000861165 SCV002554881 benign 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000861165 SCV002796018 likely benign 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2021-10-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432648 SCV004156335 benign not provided 2023-04-01 criteria provided, single submitter clinical testing SERAC1: BP4, BS1, BS2

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