ClinVar Miner

Submissions for variant NM_001371333.1(DIABLO):c.377C>T (p.Ser126Leu)

dbSNP: rs387906893
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522513 SCV000617861 pathogenic not provided 2020-07-13 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect of protein degradation (Cheng et al., 2011); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 21722859)
Labcorp Genetics (formerly Invitae), Labcorp RCV000522513 SCV004295438 uncertain significance not provided 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 126 of the DIABLO protein (p.Ser126Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with deafness (PMID: 21722859). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 30449). 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. Experimental studies have shown that this missense change affects DIABLO function (PMID: 21722859). 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.
OMIM RCV000023402 SCV000044693 pathogenic Autosomal dominant nonsyndromic hearing loss 64 2011-07-15 flagged submission literature only

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