ClinVar Miner

Submissions for variant NM_001378778.1(MPDZ):c.5492T>C (p.Phe1831Ser)

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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 RCV002766099 SCV003028072 uncertain significance not provided 2022-10-17 criteria provided, single submitter clinical testing 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. 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: "Benign"; Align-GVGD: "Class C65"). This variant has not been reported in the literature in individuals affected with MPDZ-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1802 of the MPDZ protein (p.Phe1802Ser).
Ambry Genetics RCV003167712 SCV003890905 uncertain significance Inborn genetic diseases 2023-01-25 criteria provided, single submitter clinical testing The c.5405T>C (p.F1802S) alteration is located in exon 39 (coding exon 39) of the MPDZ gene. This alteration results from a T to C substitution at nucleotide position 5405, causing the phenylalanine (F) at amino acid position 1802 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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