ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.583C>G (p.Leu195Val)

gnomAD frequency: 0.00013  dbSNP: rs1002962662
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733809 SCV000861909 uncertain significance not provided 2018-06-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002535351 SCV003248938 uncertain significance Tyrosinemia type I 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 195 of the FAH protein (p.Leu195Val). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with FAH-related conditions. ClinVar contains an entry for this variant (Variation ID: 597632). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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