ClinVar Miner

Submissions for variant NM_001177316.2(SLC34A3):c.1058G>T (p.Arg353Leu)

dbSNP: rs121918234
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000001492 SCV000608396 pathogenic Autosomal recessive hypophosphatemic bone disease 2017-10-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001851549 SCV002108016 uncertain significance not provided 2024-04-05 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 353 of the SLC34A3 protein (p.Arg353Leu). This variant is present in population databases (rs121918234, gnomAD 0.004%). This missense change has been observed in individual(s) with clinical features of SLC34A3-related conditions and/or hypophosphatemic rickets (PMID: 16358215, 34805638; Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 1427). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SLC34A3 protein function with a negative predictive value of 80%. 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.
Mendelics RCV000001492 SCV002519771 pathogenic Autosomal recessive hypophosphatemic bone disease 2022-05-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000001492 SCV005681746 uncertain significance Autosomal recessive hypophosphatemic bone disease 2024-01-20 criteria provided, single submitter clinical testing
OMIM RCV000001492 SCV000021647 pathogenic Autosomal recessive hypophosphatemic bone disease 2006-02-01 no assertion criteria provided literature only

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