ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.268C>A (p.Pro90Thr)

gnomAD frequency: 0.00001  dbSNP: rs772032731
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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 RCV000796314 SCV000935821 uncertain significance not provided 2025-01-22 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 90 of the MSH3 protein (p.Pro90Thr). This variant is present in population databases (rs772032731, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with MSH3-related conditions. ClinVar contains an entry for this variant (Variation ID: 642785). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The threonine 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.
Ambry Genetics RCV002458435 SCV002739764 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-15 criteria provided, single submitter clinical testing The c.268C>A (p.P90T) alteration is located in exon 2 (coding exon 2) of the MSH3 gene. This alteration results from a C to A substitution at nucleotide position 268, causing the proline (P) at amino acid position 90 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV000796314 SCV005188838 uncertain significance not provided criteria provided, single submitter not provided
Fulgent Genetics, Fulgent Genetics RCV005036143 SCV005673159 uncertain significance Endometrial carcinoma; Familial adenomatous polyposis 4 2024-03-18 criteria provided, single submitter clinical testing

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