ClinVar Miner

Submissions for variant NM_020708.5(SLC12A5):c.2375T>A (p.Ile792Asn)

gnomAD frequency: 0.00005  dbSNP: rs769820337
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000812066 SCV000952368 uncertain significance Developmental and epileptic encephalopathy, 34 2022-08-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SLC12A5-related conditions. ClinVar contains an entry for this variant (Variation ID: 655810). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. This sequence change replaces isoleucine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 792 of the SLC12A5 protein (p.Ile792Asn). This variant is present in population databases (rs769820337, gnomAD 0.01%).
Ambry Genetics RCV004028757 SCV003566342 uncertain significance not specified 2021-08-09 criteria provided, single submitter clinical testing The c.2444T>A (p.I815N) alteration is located in exon 18 (coding exon 18) of the SLC12A5 gene. This alteration results from a T to A substitution at nucleotide position 2444, causing the isoleucine (I) at amino acid position 815 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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