ClinVar Miner

Submissions for variant NM_001127898.4(CLCN5):c.941C>T (p.Ser314Leu) (rs151340626)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485318 SCV000564885 likely pathogenic not provided 2015-10-15 criteria provided, single submitter clinical testing The S244L likely pathogenic variant in the CLCN5 gene has been reported previously in association with Dent disease, and expression studies of the S244L variant show that its presence reduced the current of the CLCN5 chloride channel (Lloyd et al., 1996; Sekine et al. 2014; Wu et al. 2009; Coulibaly et al. 2012; Grand et al., 2011). The S244L variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The S244L variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, S244L is a strong candidate for a pathogenic variant, although the possibility that it is a rare benign variant cannot be completely excluded.
OMIM RCV000012570 SCV000032804 pathogenic Hypophosphatemic rickets, X-linked recessive 1997-06-01 no assertion criteria provided literature only
GeneReviews RCV000012570 SCV000055644 pathologic Hypophosphatemic rickets, X-linked recessive 2012-08-09 no assertion criteria provided curation Converted during submission to Pathogenic.
GeneReviews RCV000192274 SCV000243782 likely pathogenic Dent disease type 1 2014-09-25 no assertion criteria provided literature only

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