ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.2913G>C (p.Leu971Phe)

gnomAD frequency: 0.00001  dbSNP: rs775386491
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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 RCV001056458 SCV001220901 uncertain significance not provided 2024-12-24 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 971 of the MSH3 protein (p.Leu971Phe). 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 variant has not been reported in the literature in individuals affected with MSH3-related conditions. ClinVar contains an entry for this variant (Variation ID: 851946). 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.
Ambry Genetics RCV002436622 SCV002745962 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-18 criteria provided, single submitter clinical testing The c.2913G>C (p.L971F) alteration is located in exon 21 (coding exon 21) of the MSH3 gene. This alteration results from a G to C substitution at nucleotide position 2913, causing the leucine (L) at amino acid position 971 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005036357 SCV005666215 uncertain significance Endometrial carcinoma; Familial adenomatous polyposis 4 2024-04-11 criteria provided, single submitter clinical testing

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