ClinVar Miner

Submissions for variant NM_003051.4(SLC16A1):c.937C>T (p.Arg313Ter)

dbSNP: rs606231299
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002283458 SCV002572683 pathogenic Ketoacidosis due to monocarboxylate transporter-1 deficiency 2022-09-01 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: <0.001%). Stop-gained (nonsense) is predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. Functional studies provide strong evidence of the variant having a damaging effect on the gene or gene product (PMID: 25390740). The variant has been reported to be associated with SLC16A1-related disorder (ClinVar ID: VCV000158079 / PMID: 25390740). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital RCV002283458 SCV002765160 pathogenic Ketoacidosis due to monocarboxylate transporter-1 deficiency criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003556185 SCV004291970 pathogenic not provided 2023-12-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg313*) in the SLC16A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC16A1 are known to be pathogenic (PMID: 25390740). This variant is present in population databases (rs606231299, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with autosomal recessive SLC16A1-related conditions (PMID: 25390740). ClinVar contains an entry for this variant (Variation ID: 158079). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV003556185 SCV005325218 pathogenic not provided 2023-12-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Nonsense 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; This variant is associated with the following publications: (PMID: 35729663, 25390740)
OMIM RCV000145408 SCV000192497 pathogenic Monocarboxylate transporter 1 deficiency, autosomal recessive 2014-11-13 no assertion criteria provided literature only

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