ClinVar Miner

Submissions for variant NM_001365088.1(SLC12A6):c.1576A>G (p.Thr526Ala)

dbSNP: rs1555379629
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001865665 SCV002250719 uncertain significance not provided 2021-07-21 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. 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"). This variant has been observed in individual(s) with clinical features of Charcot-Marie-Tooth disease (Invitae). ClinVar contains an entry for this variant (Variation ID: 440933). This sequence change replaces threonine with alanine at codon 526 of the SLC12A6 protein (p.Thr526Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine.
GenomeConnect, ClinGen RCV000509456 SCV000606878 not provided Agenesis of the corpus callosum with peripheral neuropathy no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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