ClinVar Miner

Submissions for variant NM_004252.5(NHERF1):c.203A>C (p.Glu68Ala)

gnomAD frequency: 0.00281  dbSNP: rs139622189
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521667 SCV000617766 uncertain significance not provided 2017-08-03 criteria provided, single submitter clinical testing The E68A variant in the SLC9A3R1 gene has been reported previously in one individual with inappropriate renal phosphate reabsorption (Courbebaisse et al., 2012). The E68A variant is observed in 62/4432 (1.39%) alleles from individuals of African background in the ExAC dataset, which is greater than expected for this disorder (Lek et al., 2016). The E68A variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. Functional studies demonstrate that E68A failed to increase phosphate transport, did not interact with NPT2a, and was unable to bind to transient receptor potential cation channels (Courbebaisse et al., 2012; Storch et al., 2017). We interpret E68A as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000521667 SCV001720488 benign not provided 2023-12-20 criteria provided, single submitter clinical testing

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