ClinVar Miner

Submissions for variant NM_015922.3(NSDHL):c.1031A>G (p.Lys344Arg)

dbSNP: rs2125017628
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001972898 SCV002249895 uncertain significance not provided 2023-06-09 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 1468939). This variant has not been reported in the literature in individuals affected with NSDHL-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 344 of the NSDHL protein (p.Lys344Arg).
Fulgent Genetics, Fulgent Genetics RCV002497914 SCV002806893 uncertain significance Child syndrome; CK syndrome 2024-02-12 criteria provided, single submitter clinical testing

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