ClinVar Miner

Submissions for variant NM_001354604.2(MITF):c.953T>C (p.Leu318Pro)

dbSNP: rs1553704097
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659862 SCV000781743 likely pathogenic Waardenburg syndrome type 2A 2016-11-01 criteria provided, single submitter clinical testing
Laboratory of Prof. Karen Avraham, Tel Aviv University RCV000659862 SCV001164284 pathogenic Waardenburg syndrome type 2A 2018-05-07 criteria provided, single submitter research Dominant, congenital, profound HL and albinism
GeneDx RCV002466557 SCV002762549 likely pathogenic not provided 2022-06-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33111345)
Invitae RCV003767914 SCV004580123 likely pathogenic Tietz syndrome; Waardenburg syndrome type 2A; Melanoma, cutaneous malignant, susceptibility to, 8 2023-10-17 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 211 of the MITF protein (p.Leu211Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with clinical features of Waardenburg syndrome (PMID: 33111345; Invitae). It has also been observed to segregate with disease in related individuals. This variant is also known as c.935T>C (p.Leu312Pro). ClinVar contains an entry for this variant (Variation ID: 547531). 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 currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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