ClinVar Miner

Submissions for variant NM_001242957.3(MAK):c.1930T>C (p.Tyr644His)

dbSNP: rs1581624496
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics, Royal Melbourne Hospital RCV001788850 SCV002029241 uncertain significance Retinitis pigmentosa 62 2023-03-30 criteria provided, single submitter clinical testing This sequence change in MAK is predicted to replace tyrosine with histidine at codon 644 (p.(Tyr644His)). The tyrosine residue is highly conserved (100 vertebrates, UCSC), and is not located in an annotated functional domain. There is a moderate physicochemical difference between tyrosine and histidine. This variant is absent from gnomAD v2.1 and v3.1. To our knowledge, this variant has not been reported in the literature in any individuals with MAK-related disease. Multiple lines of computational evidence predict a deleterious effect for the missense substitution (6/6 algorithms). Based on the classification scheme RMH Modified ACMG Guidelines v1.4.0, this variant is classified as a VARIANT OF UNCERTAIN SIGNIFICANCE. Following criteria are met: PM2_Supporting, PP3.
Labcorp Genetics (formerly Invitae), Labcorp RCV002034628 SCV002217747 uncertain significance not provided 2022-06-13 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1326972). This variant has not been reported in the literature in individuals affected with MAK-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 644 of the MAK protein (p.Tyr644His).

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