ClinVar Miner

Submissions for variant NM_052867.4(NALCN):c.1894C>T (p.Arg632Ter)

dbSNP: rs541633673
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001784707 SCV002018202 pathogenic not provided 2022-04-21 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252705 SCV002523399 likely pathogenic See cases 2019-12-26 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1, PM2
GeneDx RCV001784707 SCV002756689 pathogenic not provided 2022-11-21 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 25533962)
Fulgent Genetics, Fulgent Genetics RCV002478009 SCV002796902 pathogenic Hypotonia, infantile, with psychomotor retardation and characteristic facies 1; Congenital contractures of the limbs and face, hypotonia, and developmental delay 2022-01-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001784707 SCV004539008 pathogenic not provided 2023-09-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1323324). This variant is also known as chr13:101797193G>A. This premature translational stop signal has been observed in individual(s) with clinical features of NALCN-related conditions (PMID: 25533962). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Arg632*) in the NALCN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NALCN are known to be pathogenic (PMID: 23749988, 24075186).

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