ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.1844C>T (p.Ser615Leu) (rs779160677)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000681800 SCV001406091 pathogenic not provided 2020-10-04 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 615 of the SLC12A3 protein (p.Ser615Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs779160677, ExAC 0.04%). This variant has been observed in individual(s) with clinical features of Gitelman syndrome (PMID: 11168953, 20552229, 30596175, 27303630, 22728489). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 562346). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). For these reasons, this variant has been classified as Pathogenic.
Gharavi Laboratory,Columbia University RCV000681800 SCV000809267 likely pathogenic not provided 2018-09-16 no assertion criteria provided research

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