ClinVar Miner

Submissions for variant NM_001378778.1(MPDZ):c.2302G>A (p.Val768Ile)

gnomAD frequency: 0.00001  dbSNP: rs1422353274
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002011239 SCV002293229 uncertain significance not provided 2022-07-19 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1503394). This variant has not been reported in the literature in individuals affected with MPDZ-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 768 of the MPDZ protein (p.Val768Ile). 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.
Ambry Genetics RCV002657695 SCV003539122 uncertain significance Inborn genetic diseases 2022-12-27 criteria provided, single submitter clinical testing The c.2302G>A (p.V768I) alteration is located in exon 16 (coding exon 16) of the MPDZ gene. This alteration results from a G to A substitution at nucleotide position 2302, causing the valine (V) at amino acid position 768 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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