ClinVar Miner

Submissions for variant NM_012082.4(ZFPM2):c.1889C>T (p.Thr630Ile)

gnomAD frequency: 0.00002  dbSNP: rs756076552
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000798220 SCV000937822 uncertain significance 46,XY sex reversal 9 2023-07-06 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 630 of the ZFPM2 protein (p.Thr630Ile). This variant is present in population databases (rs756076552, gnomAD 0.008%). 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 644327). This variant has not been reported in the literature in individuals affected with ZFPM2-related conditions.
Ambry Genetics RCV002537082 SCV003539708 uncertain significance Inborn genetic diseases 2022-12-01 criteria provided, single submitter clinical testing The c.1889C>T (p.T630I) alteration is located in exon 8 (coding exon 8) of the ZFPM2 gene. This alteration results from a C to T substitution at nucleotide position 1889, causing the threonine (T) at amino acid position 630 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003141786 SCV003826113 uncertain significance not provided 2020-04-04 criteria provided, single submitter clinical testing

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