ClinVar Miner

Submissions for variant NM_001038603.3(MARVELD2):c.958C>G (p.Leu320Val)

gnomAD frequency: 0.00003  dbSNP: rs767827863
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001931167 SCV002195814 uncertain significance not provided 2022-06-13 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 320 of the MARVELD2 protein (p.Leu320Val). This variant is present in population databases (rs767827863, gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MARVELD2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Fulgent Genetics, Fulgent Genetics RCV002484539 SCV002804020 uncertain significance Autosomal recessive nonsyndromic hearing loss 49 2021-12-14 criteria provided, single submitter clinical testing

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