Submissions for variant NM_003052.5(SLC34A1):c.454_480dup (p.Val152_Val160dup)

dbSNP: rs777543926

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	RCV001251504	SCV001427149	likely pathogenic	Hypercalcemia, infantile, 2	2019-03-20	criteria provided, single submitter	clinical testing	A heterozygous inframe insertion variant, NM_003052.5(SLC34A1):c.454_480dup, has been identified in exon 5 of 13 of the SLC34A1 gene. The variant is predicted to result in an inframe insertion of multiple amino acids (NP_003043.3(SLC34A1):p.(Val152_Val160dup)). The residues at this position have high conservation (100 vertebrates, UCSC), and are located within the Na+/Pi-cotransporter functional domain. The variant is present in the gnomAD database at a frequency of 0.00119% (3 heterozygotes, 0 homozygotes). This variant has not been previously reported in clinical cases. An alternative inframe duplication, completely encompassed within our inframe variant, has also been reported in several patients with idiopathic infantile hypercalcaemia and renal falconi syndrome (ClinVar, Demir, K., et al. (2017)). Subsequent analysis of parental samples indicated this variant was maternally inherited. Based on the information available at the time of curation, this variant has been classified as LIKELY PATHOGENIC.
CeGaT Center for Human Genetics Tuebingen	RCV003883591	SCV004703347	likely pathogenic	not provided	2023-12-01	criteria provided, single submitter	clinical testing	SLC34A1: PM1, PM2, PM4