ClinVar Miner

Submissions for variant NM_001085411.3(NADK2):c.1A>G (p.Met1Val)

gnomAD frequency: 0.00002  dbSNP: rs1277388010
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000558004 SCV000622147 uncertain significance Progressive encephalopathy with leukodystrophy due to DECR deficiency 2016-03-17 criteria provided, single submitter clinical testing This individual has been reported in PMID:29388319.
Labcorp Genetics (formerly Invitae), Labcorp RCV000558004 SCV003264084 uncertain significance Progressive encephalopathy with leukodystrophy due to DECR deficiency 2022-07-07 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: 453290). Disruption of the initiator codon has been observed in individual(s) with clinical features of 2,4-dienoyl CoA reductase 1 deficiency (PMID: 29388319). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change affects the initiator methionine of the NADK2 mRNA. The next in-frame methionine is located at codon 164.
OMIM RCV000558004 SCV001193448 pathogenic Progressive encephalopathy with leukodystrophy due to DECR deficiency 2020-03-31 no assertion criteria provided literature only

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