ClinVar Miner

Submissions for variant NM_003052.5(SLC34A1):c.279G>C (p.Lys93Asn)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004459177 SCV004950565 uncertain significance Inborn genetic diseases 2024-01-23 criteria provided, single submitter clinical testing The c.279G>C (p.K93N) alteration is located in exon 4 (coding exon 3) of the SLC34A1 gene. This alteration results from a G to C substitution at nucleotide position 279, causing the lysine (K) at amino acid position 93 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005038680 SCV005671502 uncertain significance Hypophosphatemic nephrolithiasis/osteoporosis 1; Fanconi renotubular syndrome 2; Hypercalcemia, infantile, 2 2024-06-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004723590 SCV005336763 uncertain significance SLC34A1-related disorder 2024-08-29 no assertion criteria provided clinical testing The SLC34A1 c.279G>C variant is predicted to result in the amino acid substitution p.Lys93Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.028% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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