ClinVar Miner

Submissions for variant NM_001378778.1(MPDZ):c.893G>C (p.Ser298Thr)

gnomAD frequency: 0.00029  dbSNP: rs201889514
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001301971 SCV001491158 uncertain significance not provided 2023-12-18 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 298 of the MPDZ protein (p.Ser298Thr). This variant is present in population databases (rs201889514, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with MPDZ-related conditions. ClinVar contains an entry for this variant (Variation ID: 1005147). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Baylor Genetics RCV001336615 SCV001530042 uncertain significance Hydrocephalus, nonsyndromic, autosomal recessive 2 2018-09-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002543094 SCV003702110 uncertain significance Inborn genetic diseases 2022-01-25 criteria provided, single submitter clinical testing The c.893G>C (p.S298T) alteration is located in exon 7 (coding exon 7) of the MPDZ gene. This alteration results from a G to C substitution at nucleotide position 893, causing the serine (S) at amino acid position 298 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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