Submissions for variant NM_001177316.2(SLC34A3):c.496G>A (p.Gly166Ser)

gnomAD frequency: 0.00009  dbSNP: rs200536604

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001226532	SCV001398849	uncertain significance	not provided	2022-04-28	criteria provided, single submitter	clinical testing	This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 166 of the SLC34A3 protein (p.Gly166Ser). This variant is present in population databases (rs200536604, gnomAD 0.009%). This missense change has been observed in individual(s) with hypophosphatemia (PMID: 31672324). ClinVar contains an entry for this variant (Variation ID: 954131). 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: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP	RCV002253785	SCV002525448	pathogenic	Hypophosphatemic nephrolithiasis/osteoporosis 1	2022-05-20	criteria provided, single submitter	clinical testing	ACMG criteria used to classify the variant:PS3, PS4, PM1, PM2, PP3
CeGaT Center for Human Genetics Tuebingen	RCV001226532	SCV005050785	uncertain significance	not provided	2024-05-01	criteria provided, single submitter	clinical testing	SLC34A3: PM2, PP3, PP4, PS3:Supporting