ClinVar Miner

Submissions for variant NM_003052.5(SLC34A1):c.80C>T (p.Thr27Met)

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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 RCV002933890 SCV003269753 uncertain significance not provided 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 27 of the SLC34A1 protein (p.Thr27Met). This variant is present in population databases (rs139640340, gnomAD 0.006%). This missense change has been observed in individual(s) with clinical features of SLC34A1-related conditions (PMID: 33964006). 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: "Benign"; 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.
Fulgent Genetics, Fulgent Genetics RCV005034501 SCV005669376 uncertain significance Hypophosphatemic nephrolithiasis/osteoporosis 1; Fanconi renotubular syndrome 2; Hypercalcemia, infantile, 2 2024-05-23 criteria provided, single submitter clinical testing

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