ClinVar Miner

Submissions for variant NM_052867.4(NALCN):c.2307T>G (p.His769Gln)

gnomAD frequency: 0.00016  dbSNP: rs147070169
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001574436 SCV001801255 uncertain significance not provided 2022-10-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001574436 SCV004624484 benign not provided 2024-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004651692 SCV005141524 uncertain significance Inborn genetic diseases 2024-05-29 criteria provided, single submitter clinical testing The c.2307T>G (p.H769Q) alteration is located in exon 20 (coding exon 19) of the NALCN gene. This alteration results from a T to G substitution at nucleotide position 2307, causing the histidine (H) at amino acid position 769 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GenomeConnect, ClinGen RCV001825005 SCV002075026 not provided Hypotonia, infantile, with psychomotor retardation and characteristic facies 1; Congenital contractures of the limbs and face, hypotonia, and developmental delay no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 02-05-2020 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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