ClinVar Miner

Submissions for variant NM_025243.4(SLC19A3):c.74dup (p.Ser26fs)

dbSNP: rs786205213
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000367514 SCV000329937 pathogenic not provided 2024-04-09 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26975589, 23469184, 27621386, 27290639, 27896110, 31589614, 31216405, 34631424, 20065143, 24957181, 34789446, 37628588)
Baylor Genetics RCV000170443 SCV000992833 pathogenic Biotin-responsive basal ganglia disease 2017-12-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000170443 SCV001590149 pathogenic Biotin-responsive basal ganglia disease 2023-11-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser26Leufs*19) in the SLC19A3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC19A3 are known to be pathogenic (PMID: 23423671, 23482991). This variant is present in population databases (rs786205213, gnomAD 0.002%). This premature translational stop signal has been observed in individuals with autosomal recessive biotin-responsive basal ganglia disease (PMID: 20065143, 27896110). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 190224). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000170443 SCV005656184 pathogenic Biotin-responsive basal ganglia disease 2024-02-21 criteria provided, single submitter clinical testing
OMIM RCV000170443 SCV000025005 pathogenic Biotin-responsive basal ganglia disease 2010-01-01 no assertion criteria provided literature only
Mendelics RCV000170443 SCV000222881 pathogenic Biotin-responsive basal ganglia disease 2014-12-23 no assertion criteria provided clinical testing

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