ClinVar Miner

Submissions for variant NM_198586.3(NHLRC1):c.721C>G (p.Leu241Val)

gnomAD frequency: 0.00005  dbSNP: rs772155104
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV004799265 SCV001431049 uncertain significance Myoclonic epilepsy of Lafora 2 2021-12-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001879922 SCV002172941 uncertain significance Lafora disease 2022-04-29 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 241 of the NHLRC1 protein (p.Leu241Val). This variant is present in population databases (rs772155104, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with NHLRC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 977342). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Ambry Genetics RCV004035341 SCV004992070 uncertain significance Inborn genetic diseases 2023-10-13 criteria provided, single submitter clinical testing The c.721C>G (p.L241V) alteration is located in exon 1 (coding exon 1) of the NHLRC1 gene. This alteration results from a C to G substitution at nucleotide position 721, causing the leucine (L) at amino acid position 241 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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