ClinVar Miner

Submissions for variant NM_003052.5(SLC34A1):c.653C>T (p.Ala218Val)

gnomAD frequency: 0.00009  dbSNP: rs141770901
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001315523 SCV001506101 uncertain significance not provided 2021-05-29 criteria provided, single submitter clinical testing 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. Experimental studies have shown that this variant affects SLC34A1 protein function (PMID: 30778725). This variant has been observed in individual(s) with nephrolithiasis (PMID: 30778725). This variant is present in population databases (rs141770901, ExAC 0.02%). This sequence change replaces alanine with valine at codon 218 of the SLC34A1 protein (p.Ala218Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine.
Fulgent Genetics, Fulgent Genetics RCV002504485 SCV002815066 uncertain significance Hypophosphatemic nephrolithiasis/osteoporosis 1; Fanconi renotubular syndrome 2; Hypercalcemia, infantile, 2 2022-05-18 criteria provided, single submitter clinical testing

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