ClinVar Miner

Submissions for variant NM_022042.4(SLC26A1):c.1073C>T (p.Ser358Leu) (rs148832260)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000234844 SCV001368734 likely pathogenic Calcium oxalate urolithiasis 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM2,PP3.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000681877 SCV001371194 likely pathogenic not provided 2020-04-01 criteria provided, single submitter clinical testing
Invitae RCV000681877 SCV001381783 uncertain significance not provided 2019-05-29 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 358 of the SLC26A1 protein (p.Ser358Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs148832260, ExAC 0.09%). This variant has been reported in the compound heterozygous state in an individual affected with nephrolithiasis (PMID: 27210743). ClinVar contains an entry for this variant (Variation ID: 242375). Experimental studies have shown that the equivalent missense change in mouse protein impairs protein processing and decreases transporter activity in vitro (PMID: 27210743). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM RCV000234844 SCV000292031 pathogenic Calcium oxalate urolithiasis 2016-07-20 no assertion criteria provided literature only
Gharavi Laboratory,Columbia University RCV000681877 SCV000809356 pathogenic not provided 2018-09-16 no assertion criteria provided research

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