ClinVar Miner

Submissions for variant NM_000338.3(SLC12A1):c.1970C>T (p.Ala657Val)

dbSNP: rs2041701051
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sydney Genome Diagnostics, Children's Hospital Westmead RCV001328100 SCV001449421 uncertain significance Familial hypokalemia-hypomagnesemia; Bartter syndrome 2018-05-29 no assertion criteria provided clinical testing This individual is homozygous for a variant of unknown clinical significance (VOUS), c.1970C>T (p.Ala657Val), in the SLC12A1 gene. To our knowledge, this variant has not been previously reported in the literature or any variant databases (i.e. ExAC, ESP or dbSNP). In silico analysis (Alamut Visual v2.8.1) using SIFT, MutationTaster and PolyPhen2 suggest this variant is likely to be pathogenic. This variant is considered to be a variant of uncertain clinical significance (VOUS) according to the ACMG guidelines.

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