ClinVar Miner

Submissions for variant NM_001287.6(CLCN7):c.2402C>T (p.Ser801Leu)

gnomAD frequency: 0.00006  dbSNP: rs184833329
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001119937 SCV001278392 uncertain significance Osteopetrosis 2018-03-23 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001882390 SCV002236963 uncertain significance not provided 2023-12-17 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 801 of the CLCN7 protein (p.Ser801Leu). This variant is present in population databases (rs184833329, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CLCN7-related conditions. ClinVar contains an entry for this variant (Variation ID: 887290). 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. 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 RCV004032220 SCV004928116 uncertain significance Inborn genetic diseases 2023-12-08 criteria provided, single submitter clinical testing The c.2402C>T (p.S801L) alteration is located in exon 25 (coding exon 25) of the CLCN7 gene. This alteration results from a C to T substitution at nucleotide position 2402, causing the serine (S) at amino acid position 801 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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