ClinVar Miner

Submissions for variant NM_054027.6(ANKH):c.1000C>G (p.Leu334Val)

gnomAD frequency: 0.00003  dbSNP: rs199961741
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001151715 SCV001312880 uncertain significance Chondrocalcinosis 2 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001151716 SCV001312881 benign Craniometaphyseal dysplasia, autosomal dominant 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV002557273 SCV003295123 likely benign not provided 2024-11-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004986846 SCV005617949 uncertain significance Inborn genetic diseases 2024-12-09 criteria provided, single submitter clinical testing The c.1000C>G (p.L334V) alteration is located in exon 8 (coding exon 8) of the ANKH gene. This alteration results from a C to G substitution at nucleotide position 1000, causing the leucine (L) at amino acid position 334 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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