ClinVar Miner

Submissions for variant NM_003052.5(SLC34A1):c.266G>A (p.Arg89Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003004030 SCV003706734 uncertain significance Inborn genetic diseases 2022-12-19 criteria provided, single submitter clinical testing The c.266G>A (p.R89K) alteration is located in exon 4 (coding exon 3) of the SLC34A1 gene. This alteration results from a G to A substitution at nucleotide position 266, causing the arginine (R) at amino acid position 89 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005047371 SCV005671501 uncertain significance Hypophosphatemic nephrolithiasis/osteoporosis 1; Fanconi renotubular syndrome 2; Hypercalcemia, infantile, 2 2024-04-24 criteria provided, single submitter clinical testing

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