ClinVar Miner

Submissions for variant NM_003052.5(SLC34A1):c.1271C>T (p.Ser424Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004528722 SCV004109034 uncertain significance SLC34A1-related disorder 2023-05-11 criteria provided, single submitter clinical testing The SLC34A1 c.1271C>T variant is predicted to result in the amino acid substitution p.Ser424Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0080% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/5-176823830-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Fulgent Genetics, Fulgent Genetics RCV005036784 SCV005671563 uncertain significance Hypophosphatemic nephrolithiasis/osteoporosis 1; Fanconi renotubular syndrome 2; Hypercalcemia, infantile, 2 2024-03-08 criteria provided, single submitter clinical testing

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