ClinVar Miner

Submissions for variant NM_003052.5(SLC34A1):c.1238C>T (p.Thr413Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV003152946 SCV003841520 uncertain significance Hypercalcemia, infantile, 2 2023-02-23 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.001%). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.95; 3Cnet: 0.87). Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline.
Fulgent Genetics, Fulgent Genetics RCV005036680 SCV005671561 uncertain significance Hypophosphatemic nephrolithiasis/osteoporosis 1; Fanconi renotubular syndrome 2; Hypercalcemia, infantile, 2 2024-04-13 criteria provided, single submitter clinical testing

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