ClinVar Miner

Submissions for variant NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu) (rs199690076)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Klinikum rechts der Isar RCV000513414 SCV000608392 pathogenic Autosomal recessive hypophosphatemic bone disease 2017-09-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000681813 SCV000700779 pathogenic not provided 2017-02-17 criteria provided, single submitter clinical testing
Invitae RCV000681813 SCV001210798 pathogenic not provided 2020-10-19 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 192 of the SLC34A3 protein (p.Ser192Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs199690076, ExAC 0.2%). This variant has been observed in combination with another SLC34A3 variant in individuals affected with hypophosphatemic rickets with hypercalciuria (HHRH), and has been shown to segregate with HHRH in a family (PMID: 16358214, 18996815, 19820004). ClinVar contains an entry for this variant (Variation ID: 198610). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Benign; Align-GVGD: Class C0). For these reasons, this variant has been classified as Pathogenic.
Gharavi Laboratory,Columbia University RCV000681813 SCV000809284 likely pathogenic not provided 2018-09-16 no assertion criteria provided research

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