ClinVar Miner

Submissions for variant NM_080877.2(SLC34A3):c.448+1G>A (rs150841256)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514313 SCV000610299 pathogenic not provided 2017-09-25 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000514313 SCV000856151 likely pathogenic not provided 2017-08-07 criteria provided, single submitter clinical testing
GeneDx RCV000514313 SCV000709851 likely pathogenic not provided 2017-12-19 criteria provided, single submitter clinical testing The c.448+1G>A variant in the SLC34A3 gene has been reported previously, using alternate nomenclature g.1226G>A, in an individual with HHRH who was compound heterozygous for c.448+1G>A and another SLC34A3 variant (Phulwani et al., 2011). RT-PCR studies of c.448+1G>A indicate that it creates an alternative splice donor site upstream of the natural splice donor site in intron 5, leading to a frameshift and a truncated transcript (Phulwani et al., 2011). The c.448+1G>A variant is observed in 35/118640 (0.03%) alleles from individuals of non-Finnish European background and in 39/261838 (0.015%) total alleles, including one homozygous individual, in large population cohorts (Lek et al., 2016). We interpret c.448+1G>A as a likely pathogenic variant.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000681630 SCV000809073 likely pathogenic Autosomal recessive hypophosphatemic bone disease 2018-04-04 criteria provided, single submitter clinical testing

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