ClinVar Miner

Submissions for variant NM_004733.4(SLC33A1):c.512A>G (p.Asp171Gly)

gnomAD frequency: 0.07382  dbSNP: rs3804769
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249565 SCV000310627 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000829242 SCV000970958 benign not provided 2018-05-10 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 RCV001517973 SCV001726591 benign Spastic paraplegia 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808701 SCV002056329 benign Huppke-Brendel syndrome 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808700 SCV002056340 benign Hereditary spastic paraplegia 42 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000829242 SCV005304189 benign not provided criteria provided, single submitter not provided

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