ClinVar Miner

Submissions for variant NM_001127898.4(CLCN5):c.1145C>A (p.Thr382Asn)

dbSNP: rs2519433568
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002911137 SCV003647609 uncertain significance Inborn genetic diseases 2022-10-27 criteria provided, single submitter clinical testing The c.935C>A (p.T312N) alteration is located in exon 8 (coding exon 7) of the CLCN5 gene. This alteration results from a C to A substitution at nucleotide position 935, causing the threonine (T) at amino acid position 312 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005047345 SCV005682694 uncertain significance Dent disease type 1; Hypophosphatemic rickets, X-linked recessive; X-linked recessive nephrolithiasis with renal failure; Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis 2024-04-02 criteria provided, single submitter clinical testing

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