ClinVar Miner

Submissions for variant NM_001046.3(SLC12A2):c.41G>T (p.Gly14Val)

gnomAD frequency: 0.00017  dbSNP: rs1014756958
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001907848 SCV002131094 uncertain significance not provided 2024-11-13 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 14 of the SLC12A2 protein (p.Gly14Val). This variant is present in population databases (no rsID available, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with SLC12A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1365125). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt SLC12A2 protein function with a negative predictive value of 95%. 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.
Fulgent Genetics, Fulgent Genetics RCV002506912 SCV002814797 uncertain significance Kilquist syndrome; Hearing loss, autosomal dominant 78; Delpire-McNeill syndrome 2022-05-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002550342 SCV003535444 uncertain significance Inborn genetic diseases 2021-10-06 criteria provided, single submitter clinical testing The c.41G>T (p.G14V) alteration is located in exon 1 (coding exon 1) of the SLC12A2 gene. This alteration results from a G to T substitution at nucleotide position 41, causing the glycine (G) at amino acid position 14 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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