ClinVar Miner

Submissions for variant NM_020381.4(PDSS2):c.908A>G (p.Glu303Gly)

gnomAD frequency: 0.00017  dbSNP: rs545787240
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002028619 SCV002277751 uncertain significance not provided 2021-11-24 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 303 of the PDSS2 protein (p.Glu303Gly). This variant is present in population databases (rs545787240, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with PDSS2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294501 SCV002587529 uncertain significance Kidney disorder 2018-07-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002625400 SCV003591335 uncertain significance Inborn genetic diseases 2021-12-07 criteria provided, single submitter clinical testing The c.908A>G (p.E303G) alteration is located in exon 6 (coding exon 6) of the PDSS2 gene. This alteration results from a A to G substitution at nucleotide position 908, causing the glutamic acid (E) at amino acid position 303 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003958462 SCV004767744 uncertain significance PDSS2-related disorder 2024-02-26 no assertion criteria provided clinical testing The PDSS2 c.908A>G variant is predicted to result in the amino acid substitution p.Glu303Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.14% of alleles in individuals of South Asian descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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